Matsumoto Naomichi 松本直通

… Alternative Names

MATSUMOTO Naomichi 松本直通

松本直道マツモトナオミチ

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Researcher Number	80325638
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 医学研究科, 教授
Affiliation (based on the past Project Information) *help	2024: 横浜市立大学, 医学研究科, 教授 2006 – 2021: 横浜市立大学, 医学研究科, 教授 2016 – 2017: 横浜市立大学, 大学院医学研究科, 教授 2011 – 2016: 横浜市立大学, 医学(系)研究科(研究院), 教授 2015: 横浜市立大学, 医学研究科遺伝学, 教授 … More 2015: 横浜市立大学, 医学部医学科・遺伝学, 教授 2014: 横浜市立大学, 医学系研究科, 教授 2011: 横浜市立大学, 大学院・医学研究科, 教授 2009: 横浜市立大学, 大学院・医学(系)研究科(研究院), 教授 2008 – 2009: 横浜市立大学, 医学(系)研究科(研究院), 教授 2007 – 2009: 横浜市立大学, 医学系研究科, 教授 2005 – 2006: 横浜市立大学, 大学院医学研究科, 教授 2003 – 2005: Yokohama City Graduate School of Medicine, Human Genetics, Professor, 大学院・医学研究科, 教授 2001 – 2002: 長崎大学, 医学部, 助教授 Less
Review Section/Research Field	Principal Investigator Human genetics / Biological Sciences / Biological Sciences / Basic Section 48040:Medical biochemistry-related / Human genetics Except Principal Investigator Pediatrics / Human genetics / Biological pharmacy / Neurology / Biological Sciences … More / Basic Section 52020:Neurology-related / Otorhinolaryngology / Neurosurgery / General anatomy (including histology/embryology) / General anatomy (including Histology/Embryology) / Thoracic surgery / Biological Sciences Less
Keywords	Principal Investigator ゲノム / 遺伝子 / マイクロアレー / 次世代シーケンス / 遺伝子変異 / 脳神経疾患 / CGH / Genome / 自然流産 / BAC … More / CNV / 染色体構造異常 / 脳・神経 / ゲノム病 / 染色体微細異常 / 精神発達遅滞 / comparative genomic hybridization / 病的構造変異 / オプティカルゲノムマッピング / 希少遺伝性疾患 / SNV / 全ゲノム解析 / 次世代シーケンス解析 / 遺伝学 / chromothripsis / Chromothripsis / リピート異常 / ロングリードシーケンス / Neurological diseases / Bioteeh nology / Nerve / Brain / Gene / バイオテクノロジー / gene / microarray / mental retardation / spontaneous abortion / 染色体異常 / 流産 / Spontaneous abortion / Structural abnormality / DNA microarray / FISH / 染色体微細構造異常 / DNAマイクロアレー / 構造異常 / DNA Microarray / 情報解析 / 切断点解析 / 次世代シーケンサー / 塩基配列決定 / 全ゲノムシーケンス / コピー数異常 / 転写調節 / 発現制御 / 転写 / 遺伝子重複 / 点変異 / BAF複合体 / Chip seq / 転写サイクル / 脊髄小脳変性症 / てんかん / シナプス関連分子 / 高速シーケンス / 領域選択技術 / 分子遺伝学 / 性分化異常 / マイクロアレイ / エピゲノム / 性分化 / 成長障害 / エピジェネシス / ソトス症候群 / 統合失調症 … More Except Principal Investigator 遺伝子 / プロテオグリカン / デルマタン硫酸 / コンドロイチン硫酸 / てんかん / 連鎖解析 / 神経変性疾患 / DNAメチル化 / 白質脳症 / 結合組織疾患 / 次世代シーケンサー / 全エクソーム解析 / グリコサミノグリカン / 幹細胞 / 遺伝子解析 / エーラス・ダンロス症候群 / 分子遺伝学 / 大田原症候群 / 脊髄小脳変性症 / 神経核内封入体病(NIID) / トリプレットリピート / リピート病 / 神経核内封入体病 / 皮膚生検 / DWI / 認知症 / 核内封入体 / NIID / GGCリピート / NOTCH2NLC / 遺伝性骨・皮膚疾患 / ゴルジ体 / ゴルジン / 皮膚弛緩症 / 骨系統疾患 / 脊椎肋骨異骨症 / LFNG / 免疫不全症 / 骨異形成性老人性皮膚症 / 脊椎骨端骨幹端異形成症 / GORAB / Golgin / エクソーム / exome / 膜融合 / 脳神経疾患 / 生理学 / 細胞・組織 / 蛋白質 / リソソーム / 細胞内分解 / オートファジー / 歌舞伎症候群 / 遺伝子発現 / ゲノムインプリンティング / ソトス症候群 / ヒストンメチル化酵素 / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / 遺伝カウンセリング / エクソーム解析 / 疾患パネル解析 / マイクロアレイ染色体検査 / 次世代シークエンサー / 知的障害 / 糖尿病 / 老化 / 骨・皮膚疾患 / ヘパラン硫酸 / アルツハイマー病 / 癌 / RAGE / DMR / 刷り込み遺伝子 / Beckwith-Wiedemann症候群 / NSD1 / Sotos症候群 / ターゲットキャプチャー / カスタムキャプチャー / positional candidate gene approach / linkage analysis / WFS1 gene / low frequency sensorineural hearing loss / hereditary hearing loss / genotype analysis / 低音障害型難聴 / WFS1遺伝子 / 低温障害型感音難聴 / 位置的候補遺伝子解析 / WFSI遺伝子 / 低音障害型感音難聴 / 遺伝性難聴 / 原因遺伝子 / ダイニン / 上衣 / 家族性正常圧水頭症 / 先天性水頭症 / 線毛 / 家族性 / 正常圧水頭症 / 解剖学 / 染色体テリトリー / エピジェネティクス / 転写因子 / 染色体 / 組織幹細胞 / 国際情報交換 / 候補遺伝子解析 / 次世代シーケンス / 新規病型 / エーラスダンロス症候群 / 初代培養細胞 / iPS細胞 / 骨髄移植 / レット症候群モデル動物 / 成長 / イオンチャンネル / QT延長 / IGF-1 / ghrelin / モデルマウス / MeCP2 / グレリン / 心臓分化 / 不整脈 / モデル動物 / ES細胞 / SHANK3遺伝子 / レット症候群 / イオンチャネル / SCN8A / SCN2A / KCNQ2 / １分子計測 / 分子認識 / 生体生命情報学 / 発現制御 / 転写サイクル / ニュージーランド / ドイツ / 変形性関節症 / 遺伝病 / 骨形成 / ダンロス症候群/糖転移酵素/硫酸基転移酵素 / 皮膚/遺伝病/脊椎骨端異形成症/ エーラス / コンドロイチン硫酸/デルマタン硫酸/骨 / 小分子RNA / 前駆細胞 / 生殖細胞 / ゲノム修飾 / 細胞分化 / Non-coding RNA / 精巣 / シーケンス / 大動脈瘤 / 早期手術及び予防 / 大動脈瘤発生 / 責任遺伝子 / マウス / 常染色体劣性遺伝 / 四肢異常 / 眼球低形成 / 皮膚 / 変異解析 / 先天性結合織疾患 / 単一遺伝子疾患 / ARX / 分子シャペロン / ポリアラニン / 介在ニューロン / ウエスト症候群 / 一塩基多型 / 遺伝子診断 / 5塩基繰り返し配列 / 脊髄小脳失調症31型 / 挿入変異 / puratrophin-1 / 常染色体優性遺伝 / SNPsチップ / 中間表現型 / 相関研究 / ゲノムスキャン / 染色体構造異常スクリーニング / 表現型不一致一卵性双生児 / 疾患感受性遺伝子 / 候補遺伝子 / 微小染色体構造異常 / CGHアレイ / 遺伝子発現差異解析 / 一卵性双生児不一致例 / 500K SNPsチップ / ゲノムワイドスキャン / 相関解析 / 双生児 / ゲノムスキャン(GWAS) / 病因遺伝子 / パニック障害 / 精神疾患 / 900k array / twin / twin NIRS / CGH array / CNVs / SNPs / GWAS / risk genes / panic disorder Less

Optical Genome Mapping of Rare Genetic Disorders: Complete Elucidation of Pathological Structural VariantsPrincipal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  Yokohama City University
Genetical and pathological study of neuronal intranuclear inclusion disease
- Principal Investigator
  
  Sone Jun
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Aichi Medical University
  National Hospital Organization Suzuka National Hospital
Disease-related genome analyses by long-read sequencersPrincipal Investigator
- Principal Investigator
  
  Matsumoto Naomichi
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Mechanism of biosynthesis of glycosaminoglycan by Golgin, and its hereditary bone and skin disorders
- Principal Investigator
  
  Mizumoto Shuji
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Biological pharmacy
- Research Institution
  Meijo University
Analysis of genetic back ground and pathomechanism of spinocerebellar degeneration
- Principal Investigator
  
  DOI Hiroshi
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Yokohama City University
Genetic studies of congenital normal pressure hydrocephalus
- Principal Investigator
  
  MIYAJIMA MASAKAZU
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurosurgery
- Research Institution
  Juntendo University
Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing
- Principal Investigator
  
  TAKANO Kyoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shinshu University
A search for target genes of aberrant histone methylation diseases and the establishment of drug discovery platform based on elucidation of pathological conditions
- Principal Investigator
  
  Soejima Hidenobu
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Saga University
Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome
- Principal Investigator
  
  KOSHO Tomoki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Analysis of 3D genome network based on study of male germ stem cell specific transcription factor, Plzf.
- Principal Investigator
  
  OHBO Kazuyuki
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  General anatomy (including histology/embryology)
- Research Institution
  Yokohama City University
Establishment of diagnosis method and analysis of genetic background of adult leukoencephalopathy patients with desktop next-generation sequencer
- Principal Investigator
  
  Ueda Naohisa
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Yokohama City University
Aberrant DNA methylation at imprinting control regions in Sotos syndrome
- Principal Investigator
  
  Higashimoto Ken
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Saga University
Roles of chondroitin sulfate interacting with RAGE involved in tumor and Alzheimer's disease
- Principal Investigator
  
  Shiji Mizumoto
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Meijo University
Physiological and pathophysiological roles for autophagy and its molecular basis
- Principal Investigator
  
  Mizushima Noboru
- Project Period (FY)
  2013 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  The University of Tokyo
Promotion of the Transcription Cycle Area
- Principal Investigator
  
  YAMAGUCHI Yuki
- Project Period (FY)
  2012 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  Tokyo Institute of Technology
Genome assay using massive parallel sequencingPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2012 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
Analysis of chromosomal structural abnormalities by next generation sequencingPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer
- Principal Investigator
  
  KATO Mitsuhiro
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Basic and clinical research for innovated biological marker and new treatment strategy inpatients with Rett syndrome
- Principal Investigator
  
  TOYOJIRO MATSUISHI
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kurume University
ヒト脳神経疾患を惹起するシナプス関連分子異常探索Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
Clinical analysis of the responsibility gene in the aortic aneurysm outbreak aiming at an early operation and the prevention
- Principal Investigator
  
  MASUDA MUNETAKA
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Thoracic surgery
- Research Institution
  Yokohama City University
Analysis of non-coding RNA expression in stem and progenitor cells in mouse testes
- Principal Investigator
  
  OHBO Kazuyuki
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  General anatomy (including Histology/Embryology)
- Research Institution
  Yokohama City University
Pathogenic mechanisms of the bone diseases caused by defect in chondroitin sulfate biosynthesis
- Principal Investigator
  
  MIZUMOTO Shuji
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Hokkaido University
Isolation of a causative gene for microphthalmia with limb anomaly
- Principal Investigator
  
  MASUKO Kiyomi
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Development of genome-partitioning technologies for next generation sequencingPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatment
- Principal Investigator
  
  KATO Mitsuhiro
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Disease gene identification of a new type of Ehlers-Danlos syndrome
- Principal Investigator
  
  MIYAKE Noriko
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
ゲノムブロック異常と精神神経疾患発症素因の解明Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2008 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
エピゲノム解析から迫るATR-X症候群の性分化異常発症機構の解明Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
Research on 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA)
- Principal Investigator
  
  YOSHIDA Kunihiro
- Project Period (FY)
  2007 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Shinshu University
ゲノムブロック異常と精神神経疾患発症素因の解明Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
エピジェネティスから捉えるSotos症候群の病態研究Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2006
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Investigation of genes for genomic disorders by microarray CGHPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
A Search for Risk Genes of Psychiatric Disorders
- Principal Investigator
  
  OKAZAKI Yuji
- Project Period (FY)
  2005 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Tokyo Metropolitan Organization for Medical Research
  Mie University
ゲノムブロック異常と精神神経疾患発症素因の解明Principal Investigator
- Principal Investigator
  
  松本直通
- Project Period (FY)
  2005
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Yokohama City University
Submicroscopic chromosomal structural aberrations in human developmental disordersPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Detection of chromosomal submicroscopic changes in spontaneous abortion by DNA microarrayPrincipal Investigator
- Principal Investigator
  
  MATSUMOTO Naomichi
- Project Period (FY)
  2002 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama city graduate school of Medicine
  Nagasaki University
Identification of causative gene for hereditary low-frequency sensorineural hearing loss
- Principal Investigator
  
  SAKIHAMA Noriyuki
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Nagasaki University

[Book] Jasper's Basic Mechanisms of the Epilepsies.2012
- Author(s)
  Saitsu H, Kato M, Matsumoto N
- Total Pages
  11
- Publisher
  Oxford
- Data Source
  KAKENHI-PROJECT-24591500
[Book] Genomic disorders : The genomic basis of disease (Edited by Lupski JR, Stankiewicz PT)2006
- Author(s)
  Kurotaki N, Matsumoto N
- Total Pages
  426
- Publisher
  The Humana Press Inc, Totowa, NJ, USA
- Data Source
  KAKENHI-PROJECT-18659094
[Book] Genomic disorders : The genomic basis of disease (Edited by Lupski JR and Stankiewicz PT)2006
- Author(s)
  Kurotaki N, Matsumoto N
- Total Pages
  426
- Publisher
  The Humana Press Inc, Totowa, NJ, USA
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing2021
- Author(s)
  Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
- Journal Title
  
  Clin Epigenetics
  
  Volume: 13 Issue: 1 Pages: 204-204
- DOI
  10.1186/s13148-021-01192-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K21400, KAKENHI-PUBLICLY-20H05370, KAKENHI-PUBLICLY-21H00207, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-19K07250, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-19KK0183
[Journal Article] Novel variants of ABCC9 in Japanese children with Cant? syndrome2020
- Author(s)
  Kubota Kazuo、Yamamoto Takahiro、Miyatake Satoko、Matsumoto Naomichi、Fukao Toshiyuki
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 3 Pages: 410-412
- DOI
  10.1111/ped.14098
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Delineation of musculocontractural Ehlers?Danlos Syndrome caused by dermatan sulfate epimerase deficiency2020
- Author(s)
  Lautrup Charlotte K.、Teik Keng W.、Unzaki Ai、Mizumoto Shuji、Syx Delfien、Sin Heng H.、Nielsen Irene K.、Markholt Sara、Yamada Shuhei、Malfait Fransiska、Matsumoto Naomichi、Miyake Noriko、Kosho Tomoki
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 8 Issue: 5
- DOI
  10.1002/mgg3.1197
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K07054
[Journal Article] Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil2020
- Author(s)
  Ohko Kentaro、Nakajima Kimiko、Nakajima Hideki、Hiraki Yoko、Kubota Kazuo、Fukao Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Sano Shigetoshi
- Journal Title
  
  The Journal of Dermatology
  
  Volume: 47 Issue: 3 Pages: 306-310
- DOI
  10.1111/1346-8138.15216
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Life-threatening muscle complications of COL4A1-related disorder2020
- Author(s)
  Okano Satomi、Shimada Sorachi、Tanaka Ryosuke、Okayama Akie、Kajihama Aya、Suzuki Nao、Nakau Koichi、Takahashi Satoru、Matsumoto Naomichi、Saitsu Hirotomo、Tanboon Jantima、Nishino Ichizo、Azuma Hiroshi
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 1 Pages: 93-97
- DOI
  10.1016/j.braindev.2019.09.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020
- Author(s)
  Miyake Noriko et al., Matsumoto Naomichi
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106 Issue: 1 Pages: 13-25
- DOI
  10.1016/j.ajhg.2019.11.011
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-19H03774, KAKENHI-PROJECT-18H02378, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K22401
[Journal Article] Two males with sick sinus syndrome in a family with 0.6?kb deletions involving major domains in MECP22020
- Author(s)
  Inui Takehiko、Iwama Kazuhiro、Miyabayashi Takuya、Sato Ryo、Okubo Yukimune、Endo Wakaba、Togashi Noriko、Kakisaka Yosuke、Kikuchi Atsuo、Mizuguchi Takeshi、Kure Shigeo、Matsumoto Naomichi、Haginoya Kazuhiro
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 3 Pages: 103769-103769
- DOI
  10.1016/j.ejmg.2019.103769
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Phenotype?genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms2020
- Author(s)
  Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 2 Pages: 199-204
- DOI
  10.1016/j.braindev.2019.10.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-18K19305
[Journal Article] Long-read sequencing for rare human genetic diseases2020
- Author(s)
  Satomi Mitsuhashi, Naomichi Matsumoto
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 1 Pages: 11-19
- DOI
  10.1038/s10038-019-0671-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-17H01539
[Journal Article] Epilepsy in Christianson syndrome: Two cases of Lennox?Gastaut syndrome and a review of literature2020
- Author(s)
  Ikeda Azusa、Yamamoto Ayako、Ichikawa Kazushi、Tsuyusaki Yu、Tsuji Megumi、Iai Mizue、Enomoto Yumi、Murakami Hiroaki、Kurosawa Kenji、Miyatake Satoko、Matsumoto Naomichi、Goto Tomohide
- Journal Title
  
  Epilepsy & Behavior Reports
  
  Volume: 13 Pages: 100349-100349
- DOI
  10.1016/j.ebr.2019.100349
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype2019
- Author(s)
  Yigit Gokhan、Saida Ken、DeMarzo Danielle、Miyake Noriko、Fujita Atsushi、Yang Tan Tiong、White Susan M.、Wadley Alexandrea、Toliat Mohammad R.、Motameny Susanne、Franitza Marek、Stutterd Chloe A.、Chong Pin F.、Kira Ryutaro、et al.
- Journal Title
  
  Human Mutation
  
  Volume: 41 Issue: 3 Pages: 591-599
- DOI
  10.1002/humu.23964
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A2019
- Author(s)
  Kibe Tetsuya、Hasegawa Hiroshi、Ichida Kimiyoshi、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Yokochi Kenji、Yoshimura Ayumi
- Journal Title
  
  Neuropediatrics
  
  Volume: - Issue: 02 Pages: 126-129
- DOI
  10.1055/s-0039-1677869
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539
[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019
- Author(s)
  Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Neurology
  
  Volume: 93 Issue: 3
- DOI
  10.1212/wnl.0000000000007774
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease2019
- Author(s)
  Tsuchida Naomi、Kirino Yohei、Soejima Yutaro、Onodera Masafumi、Arai Katsuhiro、Tamura Eiichiro、Ishikawa Takashi、Kawai Toshinao、Uchiyama Toru、Nomura Shigeru、Kobayashi Daisuke、Taguri Masataka、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Nakajima Hideaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Arthritis Research & Therapy
  
  Volume: 21 Issue: 1 Pages: 137-137
- DOI
  10.1186/s13075-019-1928-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-19H03700, KAKENHI-PROJECT-19K08312
[Journal Article] Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients2019
- Author(s)
  Kazuo Yamada, Atsushi Watanabe, Haruo Takeshita, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto and Ken-ichi Matsumoto.
- Journal Title
  
  Biological and Pharmaceutical Bulletin
  
  Volume: 42 Issue: 9 Pages: 1596-1599
- DOI
  10.1248/bpb.b19-00168
- NAID
  130007700172
- ISSN
  0918-6158, 1347-5215
- Year and Date
  2019-09-01
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08470, KAKENHI-PROJECT-17H01539
[Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE212019
- Author(s)
  Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 347-350
- DOI
  10.1038/s10038-018-0556-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures2019
- Author(s)
  Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 313-322
- DOI
  10.1038/s10038-018-0559-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204
[Journal Article] The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene2019
- Author(s)
  Peter Virginie G, et al., Matsumoto Naomichi, et al., Campos-Xavier Belinda
- Journal Title
  
  Genetics in Medicine
  
  Volume: 21 Issue: 12 Pages: 2734-2743
- DOI
  10.1038/s41436-019-0595-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] A genome-wide DNA methylation signature for SETD1B-related syndrome2019
- Author(s)
  Krzyzewska I. M. et al., Matsumoto N, et al., Alders M*,#, Mannens MMAM# (#: equal contribution).
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 11 Issue: 1
- DOI
  10.1186/s13148-019-0749-3
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)2019
- Author(s)
  Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
- Journal Title
  
  Seizure
  
  Volume: 65 Pages: 118-123
- DOI
  10.1016/j.seizure.2019.01.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07865
[Journal Article] Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation.2019
- Author(s)
  Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S,Matsumoto N, Fujii Y.
- Journal Title
  
  World Neurosurg.
  
  Volume: 印刷中 Pages: 446-450
- DOI
  10.1016/j.wneu.2019.04.156
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy2019
- Author(s)
  Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsuzono, Hirotomo Saitsu, Atsuo Nakayama
- Journal Title
  
  Molecular Genetics and Genomic Medicine
  
  Volume: 7 Issue: 7
- DOI
  10.1002/mgg3.698
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10202, KAKENHI-PROJECT-17H01539
[Journal Article] A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images ? A first case of CLCN2-related leukoencephalopathy in Japan2019
- Author(s)
  Hoshi Miyuki、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Imamura Atsushi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 1 Pages: 101-105
- DOI
  10.1016/j.braindev.2018.07.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539
[Journal Article] A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies2019
- Author(s)
  Nixon Kevin C.J.、Rousseau Justine、Stone Max H.、Sarikahya Mohammed、Ehresmann Sophie、Mizuno Seiji、Matsumoto Naomichi、Miyake Noriko、Baralle Diana、McKee Shane、Izumi Kosuke、Ritter Alyssa L.、Heide Solveig、H?ron Delphine、Depienne Christel、Titheradge Hannah、Kramer Jamie M.、Campeau Philippe M.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 4 Pages: 596-610
- DOI
  10.1016/j.ajhg.2019.02.001
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome2019
- Author(s)
  Oda Yoichiro、Uchiyama Yuri、Motomura Ai、Fujita Atsushi、Azuma Yoshiteru、Harita Yutaka、Mizuguchi Takeshi、Yanagi Kumiko、Ogata Hiroko、Hata Kenichiro、Kaname Tadashi、Matsubara Yoichi、Wakui Keiko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 10 Pages: 1005-1014
- DOI
  10.1038/s10038-019-0641-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07872, KAKENHI-PROJECT-17H01539
[Journal Article] Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation2019
- Author(s)
  Okamoto Nobuhiko、Arai Hiroshi、Onishi Toshikazu、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 1 Pages: 40-41
- DOI
  10.1111/cga.12330
- NAID
  210000012756
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539
[Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP12019
- Author(s)
  Saida Ken、Kim Chong Ae、Ceroni Jos? Ricardo Magliocco、Bertola Debora Romeo、Honjo Rachel Sayuri、Mitsuhashi Satomi、Takata Atsushi、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 9 Pages: 885-890
- DOI
  10.1038/s10038-019-0626-0
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders"2019
- Author(s)
  Nakashima M, Ogata K, Saitsu H, Matsumoto N
- Journal Title
  
  Annals of Neurology
  
  Volume: 86 Issue: 5 Pages: 805-806
- DOI
  10.1002/ana.25599
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539
[Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads2019
- Author(s)
  Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
- Journal Title
  
  Genome Biology
  
  Volume: 20 Issue: 1 Pages: 58-58
- DOI
  10.1186/s13059-019-1667-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09683, KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.2019
- Author(s)
  Watanabe H, Higashimoto K, Miyake N, Morita S, Horii T, Kimura M, Suzuki T, Maeda T, Hidaka H, Aoki S, Yatsuki H, Okamoto N, Uemura T, Hatada I, Matsumoto N, Soejima H.
- Journal Title
  
  FASEB J.
  
  Volume: 34 Issue: 1 Pages: 960-973
- DOI
  10.1096/fj.201901757r
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K06607, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02487, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-20H03643
[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy2019
- Author(s)
  Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Nature Communications
  
  Volume: 10 Issue: 1 Pages: 2506-2506
- DOI
  10.1038/s41467-019-10482-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07865
[Journal Article] Clinical and molecular spectrum of CHOPS syndrome2019
- Author(s)
  Raible Sarah, et al., Matsumoto Naomichi et al., Izumi Kosuke
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 7 Pages: 1126-1138
- DOI
  10.1002/ajmg.a.61174
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients2019
- Author(s)
  Sekiguchi Futoshi et al., Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 12 Pages: 1173-1186
- DOI
  10.1038/s10038-019-0667-4
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation2019
- Author(s)
  Ishikawa Nobutsune、Tateishi Yuichi、Tani Hiroo、Kobayashi Yoshiyuki、Itai Toshiyuki、Miyatake Satoko、Kato Mitsuhiro、Matsumoto Naomichi、Kobayashi Masao
- Journal Title
  
  Seizure
  
  Volume: 71 Pages: 20-23
- DOI
  10.1016/j.seizure.2019.05.024
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder2019
- Author(s)
  Snijders Blok Lot., et al., Matsumoto Naomichintonio, et al., Fisher Simon E.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 105 Issue: 2 Pages: 403-412
- DOI
  10.1016/j.ajhg.2019.06.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother2019
- Author(s)
  Chong Pin Fee、Matsukura Masaru、Fukui Kaoru、Watanabe Yoriko、Matsumoto Naomichi、Kira Ryutaro
- Journal Title
  
  Frontiers in Pediatrics
  
  Volume: 7
- DOI
  10.3389/fped.2019.00531
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-17H01539
[Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease2019
- Author(s)
  Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
- Journal Title
  
  Intern. Med.
  
  Volume: 58 Issue: 18 Pages: 2715-2719
- DOI
  10.2169/internalmedicine.2126-18
- NAID
  130007706950
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2019-09-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K19536
[Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019
- Author(s)
  Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
- Journal Title
  
  Annals of Neurology
  
  Volume: － Issue: 6 Pages: 927-933
- DOI
  10.1002/ana.25481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19281, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-17H01539
[Journal Article] An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome2019
- Author(s)
  Okuzono Sayaka、Fukai Ryoko、Noda Marie、Miyake Noriko、Lee Sooyoung、Kaku Noriyuki、Sanefuji Masafumi、Akamine Satoshi、Kanno Shunsuke、Ishizaki Yoshito、Torisu Hiroyuki、Kira Ryutaro、Matsumoto Naomichi、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 4 Pages: 378-381
- DOI
  10.1016/j.braindev.2018.10.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K15459
[Journal Article] A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy2019
- Author(s)
  Oguni Hirokazu、Nishikawa Aiko、Sato Yu、Otani Yui、Ito Susumu、Nagata Satoru、Kato Mitsuhiro、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Epilepsy Research
  
  Volume: 155 Pages: 106149-106149
- DOI
  10.1016/j.eplepsyres.2019.06.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019
- Author(s)
  Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 6 Pages: 1233-1240
- DOI
  10.1016/j.ajhg.2019.04.014
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K19281, KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223
[Journal Article] Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019
- Author(s)
  Fiordaliso Sarah K.、.....Shirahige Katsuhiko、Izumi Kosuke
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 105 Issue: 5 Pages: 987-995
- DOI
  10.1016/j.ajhg.2019.09.009
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-15H05970, KAKENHI-PLANNED-15H05976, KAKENHI-PLANNED-17H06331, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-INTERNATIONAL-15K21761
[Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing2019
- Author(s)
  Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 11 Pages: 1107-1116
- DOI
  10.1038/s10038-019-0654-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis2019
- Author(s)
  Izumi Yuichiro, Hamaguchi Ami, Miura Rei, Nakagawa Terumasa, Nakagawa Miyuki, Saida Ken, Miyake Noriko, Nagayoshi Yu, Kakizoe Yutaka, Miyoshi Taku, Kohda Yukimasa, Misumi Yohei, Matsumoto Naomichi, Ando Yukio, Mukoyama Masashi.
- Journal Title
  
  CEN Case Reports
  
  Volume: 9 Issue: 1 Pages: 59-64
- DOI
  10.1007/s13730-019-00429-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08247, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K09706
[Journal Article] Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases2019
- Author(s)
  Murakami Yoshiko, et al., Matsumoto Naomichi, et al., Campeau Philippe M.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 105 Issue: 2 Pages: 384-394
- DOI
  10.1016/j.ajhg.2019.05.019
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H04753, KAKENHI-PROJECT-17K10080, KAKENHI-PLANNED-17H06422
[Journal Article] Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation2019
- Author(s)
  Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFdS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, (以下21名省略）, Ikegawa S.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 5 Pages: 925-935
- DOI
  10.1016/j.ajhg.2019.03.004
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02932, KAKENHI-PROJECT-17K16710, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy2019
- Author(s)
  Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 8 Pages: 821-827
- DOI
  10.1038/s10038-019-0617-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease2019
- Author(s)
  Nakamura Yuji、Kato Kohji、Tsuchida Naomi、Matsumoto Naomichi、Takahashi Yoshiyuki、Saitoh Shinji
- Journal Title
  
  PLOS ONE
  
  Volume: 14 Issue: 8 Pages: e0221482-e0221482
- DOI
  10.1371/journal.pone.0221482
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K19524
[Journal Article] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease2019
- Author(s)
  Sone Jun、Mitsuhashi Satomi et al.
- Journal Title
  
  Nature Genetics
  
  Volume: 51 Issue: 8 Pages: 1215-1221
- DOI
  10.1038/s41588-019-0459-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07464, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K07982, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-16K09683
[Journal Article] Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome2019
- Author(s)
  Nakamura Haruko、Komiya Hiroyasu、Uematsu Eri、Nakae Yoshiharu、Tanaka Kenichi、Kunii Misako、Tada Mikiko、Joki Hideto、Koyano Shigeru、Matsumoto Naomichi、Doi Hiroshi、Takeuchi Hideyuki、Tanaka Fumiaki
- Journal Title
  
  Neurology: Clinical Practice
  
  Volume: 9 Issue: 5
- DOI
  10.1212/cpj.0000000000000599
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539
[Journal Article] A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.2019
- Author(s)
  Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C.
- Journal Title
  
  Nature Communications
  
  Volume: 10 Issue: 1 Pages: 2884-2884
- DOI
  10.1038/s41467-019-10746-4
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-17H01539
[Journal Article] Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons2019
- Author(s)
  Bell Scott, et al., Matsumoto Naomichi, et al., Ernst C*#, Campeau PM*# (*: co-correspondence) (#: equal contribution).
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 5 Pages: 815-834
- DOI
  10.1016/j.ajhg.2019.03.022
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing2019
- Author(s)
  Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: - Issue: 6 Pages: 396-407
- DOI
  10.1136/jmedgenet-2018-105775
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18K15692, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome2019
- Author(s)
  Aoi Hiromi et al., Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 10 Pages: 967-978
- DOI
  10.1038/s10038-019-0643-z
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report2019
- Author(s)
  Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  BMC Neurology
  
  Volume: 19 Issue: 1 Pages: 253-253
- DOI
  10.1186/s12883-019-1489-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
[Journal Article] Somatic mutation: The hidden genetics of brain malformations and focal epilepsies2019
- Author(s)
  Ye Zimeng、McQuillan Lara、Poduri Annapurna、Green Timothy E.、Matsumoto Naomichi、Mefford Heather C.、Scheffer Ingrid E.、Berkovic Samuel F.、Hildebrand Michael S.
- Journal Title
  
  Epilepsy Research
  
  Volume: 155 Pages: 106161-106161
- DOI
  10.1016/j.eplepsyres.2019.106161
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration2019
- Author(s)
  Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 印刷中 Issue: 14 Pages: 2319-2329
- DOI
  10.1093/hmg/ddz066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing2019
- Author(s)
  Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 5 Pages: 359-368
- DOI
  10.1038/s10038-019-0569-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539
[Journal Article] Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing2019
- Author(s)
  Hirasawa-Inoue Ayaka、Ishiyama Akihiko、Takeshita Eri、Shimizu-Motohashi Yuko、Saito Takashi、Komaki Hirofumi、Nakagawa Eiji、Yuasa Shota、Saitsu Hirotomo、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Sasaki Masayuki
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 10 Pages: 905-909
- DOI
  10.1016/j.braindev.2019.06.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant2019
- Author(s)
  Uchiyama Yuri、Kim Chong A、Pastorino Antonio Carlos、Ceroni Jos?、Lima Patricia Picciarelli、de Barros Dorna Mayra、Honjo Rachel Sayuri、Bertola D?bora、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 9 Pages: 955-960
- DOI
  10.1038/s10038-019-0631-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy2019
- Author(s)
  Okubo Masaki、Doi Hiroshi、et al.
- Journal Title
  
  Annals of Neurology
  
  Volume: 86 Issue: 6 Pages: 962-968
- DOI
  10.1002/ana.25586
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15459, KAKENHI-PROJECT-18K15460
[Journal Article] Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome2019
- Author(s)
  Lei Ming、Mitsuhashi Satomi、Miyake Noriko、Ohta Tohru、Liang Desheng、Wu Lingqian、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 7 Pages: 647-652
- DOI
  10.1038/s10038-019-0596-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621
[Journal Article] Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews2019
- Author(s)
  Weisz-Hubshman M.、Meirson H.、Michaelson-Cohen R.、Beeri R.、Tzur S.、Bormans C.、Modai S.、Shomron N.、Shilon Y.、Banne E.、Orenstein N.、Konen O.、Marek-Yagel D.、Veber A.、Shalva N.、Imagawa E.、Matsumoto N.、Lev D.、Lerman Sagie T.、Raas-Rothschild A.、Ben-Zeev B.、Basel-Salmon L.、Behar D.M.、Heimer G.
- Journal Title
  
  European Journal of Paediatric Neurology
  
  Volume: 23 Issue: 3 Pages: 418-426
- DOI
  10.1016/j.ejpn.2019.02.003
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 422019
- Author(s)
  Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, （32名略） Ishikawa T, Tanaka F
- Journal Title
  
  Neurobiology of Disease
  
  Volume: 130 Pages: 104516-104516
- DOI
  10.1016/j.nbd.2019.104516
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K17014, KAKENHI-PUBLICLY-18H04937, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02540, KAKENHI-PROJECT-17K07064, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15460
[Journal Article] A homozygous NOP14 variant is likely to cause recurrent pregnancy loss2018
- Author(s)
  Suzuki Toshifumi、Behnam Mahdiyeh、Ronasian Firooze、Salehi Mansoor、Shiina Masaaki、Koshimizu Eriko、Fujita Atsushi、Sekiguchi Futoshi、Miyatake Satoko、Mizuguchi Takeshi、Nakashima Mitsuko、Ogata Kazuhiro、Takeda Satoru、Matsumoto Naomichi、Miyake Noriko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 4 Pages: 425-430
- DOI
  10.1038/s10038-018-0410-6
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy2018
- Author(s)
  Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Mutation
  
  Volume: 39 Issue: 8 Pages: 1070-1075
- DOI
  10.1002/humu.23550
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency.2018
- Author(s)
  *Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H.
- Journal Title
  
  Int J Hematol.
  
  Volume: 108(4) Issue: 4 Pages: 443-446
- DOI
  10.1007/s12185-018-2462-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.2018
- Author(s)
  Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N#, Matsumoto N# (#: co-correspondence).
- Journal Title
  
  J Hum Genet.
  
  Volume: 63(4) Issue: 4 Pages: 487-491
- DOI
  10.1038/s10038-017-0404-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K15630
[Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease2018
- Author(s)
  Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 843-853
- DOI
  10.1002/ana.25367
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency2018
- Author(s)
  Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin’ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, and Tomoki Kosho
- Journal Title
  
  Glycobiology
  
  Volume: 28 Issue: 2 Pages: 80-89
- DOI
  10.1093/glycob/cwx099
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-16K19396, KAKENHI-PROJECT-15K07951
[Journal Article] A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.2018
- Author(s)
  Sato T*, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
- Journal Title
  
  Brain Dev.
  
  Volume: 40(9) Issue: 9 Pages: 819-823
- DOI
  10.1016/j.braindev.2018.05.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy2018
- Author(s)
  Fassio Anna、Esposito Alessandro、Kato Mitsuhiro、Saitsu Hirotomo、et al.
- Journal Title
  
  Brain
  
  Volume: 141 Issue: 6 Pages: 1703-1718
- DOI
  10.1093/brain/awy092
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160
[Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia2018
- Author(s)
  Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 548-553
- DOI
  10.1111/cge.13423
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07809, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.2018
- Author(s)
  Kohashi K, Ishiyama A*, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M.
- Journal Title
  
  Brain Dev
  
  Volume: 40(1) Issue: 1 Pages: 53-57
- DOI
  10.1016/j.braindev.2017.06.005
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PLANNED-17H06422
[Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders ? leukodystrophy and autism2018
- Author(s)
  Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Ueda Yuki、Imai Katsumi、Takahashi Yukitoshi、Imagawa Eri、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 18-18
- DOI
  10.1038/s41439-018-0020-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07865
[Journal Article] Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.2018
- Author(s)
  Miyata Y# (#: corresponding), Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 40(7) Issue: 7 Pages: 566-569
- DOI
  10.1016/j.braindev.2018.03.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.2018
- Author(s)
  Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
- Journal Title
  
  Seizure.
  
  Volume: 60 Pages: 91-93
- DOI
  10.1016/j.seizure.2018.06.012
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.2018
- Author(s)
  Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 102 Issue: 3 Pages: 480-486
- DOI
  10.1016/j.ajhg.2018.01.019
- NAID
  120006502505
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10099, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K08359, KAKENHI-PROJECT-15K15321, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-16H03293
[Journal Article] Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.2018
- Author(s)
  Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N*.
- Journal Title
  
  J Hum Genet
  
  Volume: 63(3) Issue: 3 Pages: 263-270
- DOI
  10.1038/s10038-017-0405-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K15630
[Journal Article] Dysosteosclerosis is also caused by TNFRSF11A mutation.2018
- Author(s)
  Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S#.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63(6) Issue: 6 Pages: 769-774
- DOI
  10.1038/s10038-018-0447-6
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18H02932, KAKENHI-PROJECT-17K16710
[Journal Article] A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia2018
- Author(s)
  Fukuda Hiroyuki、Imagawa Eri、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Kramer Uri、Matsumoto Naomichi、Fattal-Valevski Aviva
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 5 Pages: 673-676
- DOI
  10.1038/s10038-018-0421-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.2018
- Author(s)
  Shiraku H#, Nakashima M#, Takeshita S# (# denotes equal contribution), Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N*, Kato M* (*: co-correspondence).
- Journal Title
  
  Epilepsia Open.
  
  Volume: 3(4) Issue: 4 Pages: 495-502
- DOI
  10.1002/epi4.12272
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome2018
- Author(s)
  Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 814-828
- DOI
  10.1002/ana.25370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H06994
[Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy2018
- Author(s)
  Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 83 Issue: 4 Pages: 794-806
- DOI
  10.1002/ana.25208
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018
- Author(s)
  Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Genetics
  
  Volume: 137 Issue: 1 Pages: 95-104
- DOI
  10.1007/s00439-017-1863-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204
[Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases2018
- Author(s)
  Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 3 Pages: 191-197
- DOI
  10.1038/s10038-018-0551-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl2018
- Author(s)
  Yuge K, Iwama K, Yonee C,--Matsuishi T
- Journal Title
  
  Brain Dev
  
  Volume: 40 Issue: 6 Pages: 493-497
- DOI
  10.1016/j.braindev.2018.02.002
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630
[Journal Article] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation2018
- Author(s)
  Kojima K、Shirai K、Kobayashi M、Miyauchi A、Saitsu H、Matsumoto N、Osaka H、Yamagata T
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 1 Pages: 69-73
- DOI
  10.1016/j.braindev.2017.06.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] SOFT syndrome in a patient from Chile2018
- Author(s)
  Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 3 Pages: 338-340
- DOI
  10.1002/ajmg.a.61015
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder2018
- Author(s)
  Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
- Journal Title
  
  Cell Reports
  
  Volume: 22(3) Issue: 3 Pages: 734-747
- DOI
  10.1016/j.celrep.2017.12.074
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10248, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-15H04889, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H05375, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06747, KAKENHI-PROJECT-16K19626, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630
[Journal Article] Screening of known disease genes in congenital scoliosis.2018
- Author(s)
  Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: - Issue: 6 Pages: 966-974
- DOI
  10.1002/mgg3.466
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10986, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16K08251
[Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies2018
- Author(s)
  Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27 Issue: 3 Pages: 378-383
- DOI
  10.1038/s41431-018-0289-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Phenotypic and molecular insights into PQBP1-related intellectual disability.2018
- Author(s)
  Abdel-Salam GMH*, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 176(11) Issue: 11 Pages: 2446-2450
- DOI
  10.1002/ajmg.a.40479
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies2018
- Author(s)
  Saikusa Tomoko、Hara Munetsugu、Iwama Kazuhiro、Yuge Kotaro、Ohba Chihiro、Okada Jun-ichiro、Hisano Tadashi、Yamashita Yushiro、Okamoto Nobuhiko、Saitsu Hirotomo、Matsumoto Naomichi、Matsuishi Toyojiro
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 5 Pages: 406-409
- DOI
  10.1016/j.braindev.2017.12.013
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-17H01539
[Journal Article] Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.2018
- Author(s)
  Enya T*, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 176(3) Issue: 3 Pages: 707-711
- DOI
  10.1002/ajmg.a.38606
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.2018
- Author(s)
  *Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.
- Journal Title
  
  Clin Genet.
  
  Volume: 94(3-4) Issue: 3-4 Pages: 391-392
- DOI
  10.1111/cge.13378
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders2018
- Author(s)
  Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 27 Issue: 8 Pages: 1421-1433
- DOI
  10.1093/hmg/ddy052
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-17K15630
[Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum2018
- Author(s)
  Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 3-4 Pages: 362-367
- DOI
  10.1111/cge.13385
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy2018
- Author(s)
  Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 538-547
- DOI
  10.1111/cge.13454
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A recurrent homozygous NHLRC1 variant in siblings with Lafora disease2018
- Author(s)
  Araya Nami、Takahashi Yukitoshi、Shimono Masayuki、Fukuda Tomofumi、Kato Mitsuhiro、Nakashima Mitsuko、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 6-9
- DOI
  10.1038/s41439-018-0015-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K07865
[Journal Article] Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.2018
- Author(s)
  Daida A*, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M.
- Journal Title
  
  Epileptic Disord.
  
  Volume: 20(4) Issue: 4 Pages: 313-318
- DOI
  10.1684/epd.2018.0981
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539
[Journal Article] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants2018
- Author(s)
  Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N and others
- Journal Title
  
  Genetics in Medicine
  
  Volume: 21 Issue: 4 Pages: 850-860
- DOI
  10.1038/s41436-018-0259-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539
[Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 12 Pages: 1223-1229
- DOI
  10.1038/s10038-018-0516-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018
- Author(s)
  Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 4 Pages: 417-423
- DOI
  10.1038/s10038-017-0408-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15H05333, KAKENHI-PROJECT-17H00783, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-16K15526, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K11639, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H01877, KAKENHI-PROJECT-18H03372, KAKENHI-PROJECT-15H02654
[Journal Article] A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report2018
- Author(s)
  Hyun Hye Sun、Kim Seong Heon、Park Eujin、Cho Myung Hyun、Kang Hee Gyung、Lee Hyun Soon、Miyake Noriko、Matsumoto Naomichi、Tsukaguchi Hiroyasu、Cheong Hae Il
- Journal Title
  
  BMC Medical Genetics
  
  Volume: 19 Issue: 1 Pages: 131-131
- DOI
  10.1186/s12881-018-0649-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
- Journal Title
  
  Genetics in Medicine
  
  Volume: - Issue: 7 Pages: 1629-1638
- DOI
  10.1038/s41436-018-0360-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-18K15370
[Journal Article] Identification of novel LFNG mutations in spondylocostal dysostosis.2018
- Author(s)
  Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S.
- Journal Title
  
  Journal of human genetics
  
  Volume: - Issue: 3 Pages: 261-264
- DOI
  10.1038/s10038-018-0548-2
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10986, KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-17K16709
[Journal Article] Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood2018
- Author(s)
  Vogtle FN, Brandl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kucukkose C, Muhle H, Jahn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Muller FJ, Helbig I.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 102 Issue: 4 Pages: 557-573
- DOI
  10.1016/j.ajhg.2018.02.014
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539
[Journal Article] The second point mutation in PREPL: a case report and literature review.2018
- Author(s)
  Silva S, Miyake N, Tapia C, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63(5) Issue: 5 Pages: 677-681
- DOI
  10.1038/s10038-018-0426-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales2018
- Author(s)
  Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 2 Pages: 274-275
- DOI
  10.1111/cge.13369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo PHACTR1 mutations in West syndrome and their pathophysiological effects2018
- Author(s)
  Hamada Nanako、Ogaya Shunsuke、Nakashima Mitsuko、Nishijo Takuma、Sugawara Yuji、Iwamoto Ikuko、Ito Hidenori、Maki Yuki、Shirai Kentaro、Baba Shimpei、Maruyama Koichi、Saitsu Hirotomo、Kato Mitsuhiro、Matsumoto Naomichi、Momiyama Toshihiko、Nagata Koh-ichi
- Journal Title
  
  Brain
  
  Volume: 141 Pages: 3098-3114
- DOI
  10.1093/brain/awy246
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K07063, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Novel SUZ12 mutations in Weaver-like syndrome2018
- Author(s)
  Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 5 Pages: 461-466
- DOI
  10.1111/cge.13415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.2018
- Author(s)
  Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N#.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63(4) Issue: 4 Pages: 529-532
- DOI
  10.1038/s10038-017-0399-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel2018
- Author(s)
  Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
- Journal Title
  
  Clinical Genetics
  
  Volume: - Issue: 2 Pages: 232-238
- DOI
  10.1111/cge.13371
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-17H01539
[Journal Article] A novel 8-bp duplication in ADAT3 causes mild intellectual disability.2018
- Author(s)
  Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M# (#: corresponding).
- Journal Title
  
  Hum Genome Var.
  
  Volume: 21 Issue: 1 Pages: 5-7
- DOI
  10.1038/s41439-018-0007-9
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.2018
- Author(s)
  Sakaguchi T, Zigman T, Petkovic; Ramadza D, Omerza L, Puseljic; S, Eres Hrvacanin Z, Miyake N, Matsumoto N, Bariic I.
- Journal Title
  
  Hum Genome Var
  
  Volume: 8;5 Issue: 1 Pages: 18005-18005
- DOI
  10.1038/hgv.2018.5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia2018
- Author(s)
  Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 10 Pages: 1049-1054
- DOI
  10.1038/s10038-018-0488-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] wo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.2018
- Author(s)
  Takeguchi R#, Haginoya K# (# denotes equal contribution), Uchiyama Y, Fujita A, Nagura M, Takeshita E*, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.
- Journal Title
  
  Brain Dev.
  
  Volume: 40(8) Issue: 8 Pages: 728-732
- DOI
  10.1016/j.braindev.2018.04.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17H06994
[Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria2018
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 1 Pages: 159-161
- DOI
  10.1002/ana.25256
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies2018
- Author(s)
  Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
- Journal Title
  
  The Cerebellum
  
  Volume: 印刷中 Issue: 5 Pages: 525-530
- DOI
  10.1007/s12311-018-0941-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539
[Journal Article] Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.2018
- Author(s)
  Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: S1096-7192(18) Issue: 1 Pages: 30154-9
- DOI
  10.1016/j.ymgme.2018.03.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10067, KAKENHI-PROJECT-17H01539
[Journal Article] An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.2017
- Author(s)
  Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 62 Issue: 11 Pages: 997-1000
- DOI
  10.1038/jhg.2017.77
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K11077, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation2017
- Author(s)
  Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi J, Matsumoto N, Yamamoto T
- Journal Title
  
  Hum Genom Var
  
  Volume: 4 Issue: 1 Pages: 17051-17051
- DOI
  10.1038/hgv.2017.51
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17J40108
[Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder2017
- Author(s)
  Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 5 Pages: 525-529
- DOI
  10.1038/jhg.2016.163
- NAID
  40021210259
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H03293
[Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017
- Author(s)
  Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 印刷中 Issue: 8 Pages: 741-746
- DOI
  10.1038/jhg.2017.24
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome2017
- Author(s)
  Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 4 Pages: 929-930
- DOI
  10.1111/cge.13105
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293
[Journal Article] Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.2017
- Author(s)
  Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE.
- Journal Title
  
  Hum Mutat
  
  Volume: 38(11) Issue: 11 Pages: 1542-1554
- DOI
  10.1002/humu.23303
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357
[Journal Article] Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia2017
- Author(s)
  *Long Guo, *Nursel H Elcioglu, *Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa (equal contribution)
- Journal Title
  
  Journal of Human Genetics
  
  Volume: － Issue: 8 Pages: 797-801
- DOI
  10.1038/jhg.2017.38
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-17K16710, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K07951
[Journal Article] Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing2017
- Author(s)
  Lardelli RM, Schaffer AE, Eggens VR, ... Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
- Journal Title
  
  Nature Genetics
  
  Volume: 49 Issue: 3 Pages: 457-464
- DOI
  10.1038/ng.3762
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-16H03293
[Journal Article] Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.2017
- Author(s)
  Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S*.
- Journal Title
  
  Hum Genome Var
  
  Volume: 5;4 Issue: 1 Pages: 17040-17040
- DOI
  10.1038/hgv.2017.40
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation.2017
- Author(s)
  Hatano T, Daida K, Hoshino Y, Li Y, Saitsu H, Matsumoto N, Hattori N.
- Journal Title
  
  Parkinsonism and Related Disorders
  
  Volume: 40 Pages: 80-82
- DOI
  10.1016/j.parkreldis.2017.04.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09675, KAKENHI-PROJECT-16K09700, KAKENHI-PROJECT-17H01539
[Journal Article] The first report of Japanese patients with asparagine synthetase deficiency2017
- Author(s)
  Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T
- Journal Title
  
  Brain Development
  
  Volume: 39 Issue: 3 Pages: 236-242
- DOI
  10.1016/j.braindev.2016.09.010
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-16K19637, KAKENHI-PROJECT-16H03293
[Journal Article] X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.2017
- Author(s)
  *Miyake N, *Wolf N# (# correspondence), *Cayami F (*: equal contribution), et al., Matsumoto N, et al..
- Journal Title
  
  Neurogenetics
  
  Volume: 18(4) Issue: 4 Pages: 185-194
- DOI
  10.1007/s10048-017-0520-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.2017
- Author(s)
  Okamoto N., Tsuchiya Y., Kuki I., Yamamoto T., Saitsu H., Kitagawa D. and Matsumoto N.
- Journal Title
  
  Molecular Genetics and Genomic Medicine
  
  Volume: 5 Issue: 5 Pages: 585-591
- DOI
  10.1002/mgg3.303
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24113003, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06168
[Journal Article] Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy2017
- Author(s)
  Syrbe S、Harms FL、Parrini E、Montomoli M、Mutze U、Helbig KL、Polster T、Albrecht B、Bernbeck U、van Binsbergen E、Biskup S、Burglen L、Denecke J、Heron B、Heyne H O、Hoffmann GF、Hornemann F、Matsushige T、Matsuura R、Kato M、et al.
- Journal Title
  
  Brain
  
  Volume: 140 Issue: 9 Pages: 2322-2336
- DOI
  10.1093/brain/awx195
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement2017
- Author(s)
  Hori Ikumi、Otomo Takanobu、Nakashima Mitsuko、Miya Fuyuki、et al.、Saitoh Shinji
- Journal Title
  
  Scientific Reports
  
  Volume: 7 Issue: 1 Pages: 3552-3552
- DOI
  10.1038/s41598-017-02840-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PLANNED-25111002, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 100 Issue: 1 Pages: 169-178
- DOI
  10.1016/j.ajhg.2016.11.017
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H03293
[Journal Article] Three cases of KCNT1 mutations: malignant migrating partial seizures in infancy with massive systemic to pulmonary collateral arteries.2017
- Author(s)
  *Kawasaki Y, Kuki I, Ehara E, Murakami Y, Okazaki S, Kawawaki H, Hara M, Watanabe Y, Kishimoto S, Suda K, Saitsu H, Matsumoto N.
- Journal Title
  
  J Pediatr
  
  Volume: 191 Pages: 270-274
- DOI
  10.1016/j.jpeds.2017.08.057
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
- Author(s)
  Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
- Journal Title
  
  Human Mutation
  
  Volume: 印刷中 Issue: 6 Pages: 637-648
- DOI
  10.1002/humu.23200
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H06533, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05198, KAKENHI-PROJECT-16H05357
[Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia2017
- Author(s)
  Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
- Journal Title
  
  British Journal of Haematology
  
  Volume: 印刷中 Issue: 6 Pages: 843-847
- DOI
  10.1111/bjh.14710
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293
[Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions2017
- Author(s)
  Miyatake Satoko、Koshimizu Eriko、Shirai Ikuko、Kumada Satoko、Nakata Yasuhiro、Kamemaru Aiko、Nakashima Mitsuko、Mizuguchi Takeshi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Movement Disorders
  
  Volume: 33 Issue: 1 Pages: 177-179
- DOI
  10.1002/mds.27219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy2017
- Author(s)
  Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 99 Issue: 4 Pages: 950-961
- DOI
  10.1016/j.ajhg.2016.08.005
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-15H04375, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26293214, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26460373, KAKENHI-PROJECT-26461549, KAKENHI-PLANNED-24118002
[Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation2017
- Author(s)
  Okamoto Nobuhiko、Ehara Eiji、Tsurusaki Yoshinori、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 58 Issue: 3 Pages: 105-107
- DOI
  10.1111/cga.12242
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539
[Journal Article] Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations2017
- Author(s)
  Kino Jiro、Tsukaguchi Hiroyasu、Kimata Takahisa、Nguyen Huan Thanh、Nakano Yorika、Miyake Noriko、Matsumoto Naomichi、Kaneko Kazunari
- Journal Title
  
  BMC Nephrology
  
  Volume: 18 Issue: 1 Pages: 220-220
- DOI
  10.1186/s12882-017-0632-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.2017
- Author(s)
  Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
- Journal Title
  
  EMBOJ
  
  Volume: 36 Issue: 9 Pages: 1227-1242
- DOI
  10.15252/embj.201695630
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H04765, KAKENHI-PROJECT-14J07589, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K15069, KAKENHI-PROJECT-16K07001, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-15K09344
[Journal Article] Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation2017
- Author(s)
  Iwashita Hiromichi、Okudela Koji、Matsumura Mai、Yamanaka Shoji、Sawazumi Tomoe、Enaka Makiko、Udaka Naoko、Miyake Akio、Hibiya Takashi、Miyake Noriko、Matsumoto Naomichi、Makiyama Kazuhide、Yao Masahiro、Nagashima Yoji、Ohashi Kenichi
- Journal Title
  
  Pathol Int
  
  Volume: 67 Issue: 11 Pages: 585-589
- DOI
  10.1111/pin.12587
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11162, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K10600
[Journal Article] A novel mutation in SLC1A3 causes episodic ataxia2017
- Author(s)
  Iwama Kazuhiro、Iwata Aya、Shiina Masaaki、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 2 Pages: 207-211
- DOI
  10.1038/s10038-017-0365-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-17K15630
[Journal Article] Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation2017
- Author(s)
  Culic V, Miyake N, Jankovic S, Petrovic D, Simunovic M, Dapic T, Shiina M, Ogata K, Matsumoto N
- Journal Title
  
  Human Genome Variation
  
  Volume: 3 Issue: 1 Pages: 16035-16035
- DOI
  10.1038/hgv.2016.35
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-26330331
[Journal Article] FDG-PET study of patients with Leigh syndrome2016
- Author(s)
  Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake M, Saitsu H, Matsumoto N, Kure S
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 362 Pages: 309-313
- DOI
  10.1016/j.jns.2016.02.008
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25293235, KAKENHI-PLANNED-24118007
[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
- Author(s)
  Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170 Issue: 10 Pages: 2662-2670
- DOI
  10.1002/ajmg.a.37778
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy2016
- Author(s)
  Assoum M, Philippe C, et al., Matsumoto N, et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 99 Issue: 6 Pages: 1368-1376
- DOI
  10.1016/j.ajhg.2016.10.009
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations2016
- Author(s)
  Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 9 Pages: 852-826
- DOI
  10.1016/j.braindev.2016.04.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases2016
- Author(s)
  Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170 Issue: 8 Pages: 1967-1973
- DOI
  10.1002/ajmg.a.37722
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.2016
- Author(s)
  Mochida K, Amano M, Miyake N, Matsumoto N, Hatamochi A, Kosho T.
- Journal Title
  
  J Dermatol.
  
  Volume: Epub ahead of print Issue: 7 Pages: 1-2
- DOI
  10.1111/1346-8138.13273
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25461675, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17)2016
- Author(s)
  Hirabayashi S, Saitsu H, Matsumoto N
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 1 Pages: 118-123
- DOI
  10.1016/j.braindev.2015.05.004
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Association between invisible basal ganglia and ZNF335 mutations: a case report2016
- Author(s)
  Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T
- Journal Title
  
  Pediatrics
  
  Volume: 138 Issue: 3
- DOI
  10.1542/peds.2016-0897
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K10329
[Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.2016
- Author(s)
  Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
- Journal Title
  
  J Neurol Neurosurg Psychiatry.
  
  Volume: 87(2) Pages: 212-216
- DOI
  10.1136/jnnp-2014-310084
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis2016
- Author(s)
  Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T
- Journal Title
  
  BMC Neurol
  
  Volume: 16 Issue: 1 Pages: 174-174
- DOI
  10.1186/s12883-016-0680-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K09624
[Journal Article] FDG-PET study of patients with Leigh syndrome2016
- Author(s)
  Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S.
- Journal Title
  
  J Neurol Sci
  
  Volume: 362 Pages: 309-313
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Journal Article] Vein of Galen Aneurysmal malformation in monozygotic twin2016
- Author(s)
  Komiyama M, Miyatake M Watanabe Y, Terada A, Ishiguro T, Ichiba H, Matsumoto M
- Journal Title
  
  World Neurosurg
  
  Volume: 91:672 Pages: 672.e11-672.e15
- DOI
  10.1016/j.wneu.2016.04.031
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461549
[Journal Article] De novo truncating mutation of TRIM8 causes early-onset epileptic encephalopathy2016
- Author(s)
  Sakai Y#, Fukai R# (# denotes equal contribution), Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazaki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T
- Journal Title
  
  Ann Hum Genet
  
  Volume: 80 Issue: 4 Pages: 235-240
- DOI
  10.1111/ahg.12157
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 72016
- Author(s)
  Narumi S*, et al., Matsumoto N, et al.
- Journal Title
  
  Nat Genet
  
  Volume: 48 Issue: 7 Pages: 792-797
- DOI
  10.1038/ng.3569
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-24591515, KAKENHI-PROJECT-26462714, KAKENHI-PROJECT-15K09599
[Journal Article] Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.2016
- Author(s)
  Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H
- Journal Title
  
  Epilepsia
  
  Volume: 57 Issue: 4
- DOI
  10.1111/epi.13338
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09628, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] The first genetically confirmed Japanese patient with mucolipidosis type IV2016
- Author(s)
  Saijo H, Hayashi M, Ezoe T, Ohba C, Saitsu H, Kurata K, Matsumoto N
- Journal Title
  
  Clin Case Rep
  
  Volume: 4 Issue: 5 Pages: 509-512
- DOI
  10.1002/ccr3.540
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation2016
- Author(s)
  Kobayashi Y, Magara S, Okazaki K, Komatsubara T, Saitsu H, Matsumoto N, Kato M, Tohyama J
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 10 Pages: 950-953
- DOI
  10.1016/j.braindev.2016.06.004
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)2016
- Author(s)
  Klionsky DJ., Abdelmohsen K., Abe A., Abedin MJ.,Inomata M., et al.
- Journal Title
  
  Autophagy
  
  Volume: 12(1) Issue: 1 Pages: 1-222
- DOI
  10.1080/15548627.2015.1100356
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K11094, KAKENHI-PROJECT-15K14681, KAKENHI-PROJECT-15K14951, KAKENHI-PUBLICLY-15H01239, KAKENHI-PUBLICLY-15H01380, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PLANNED-26110003, KAKENHI-PUBLICLY-26111501, KAKENHI-PUBLICLY-26111503, KAKENHI-PUBLICLY-26111505, KAKENHI-PUBLICLY-26111514, KAKENHI-PUBLICLY-26111521, KAKENHI-PUBLICLY-26117727, KAKENHI-PROJECT-15H05298, KAKENHI-PROJECT-15H06095, KAKENHI-PROJECT-25460072, KAKENHI-PROJECT-25461364, KAKENHI-PROJECT-25462920, KAKENHI-PROJECT-26670446, KAKENHI-PROJECT-26670906, KAKENHI-PROJECT-25850198, KAKENHI-PROJECT-25290014, KAKENHI-PROJECT-25291040, KAKENHI-PROJECT-25291042, KAKENHI-PROJECT-25293383, KAKENHI-PROJECT-26290018, KAKENHI-PROJECT-26291039, KAKENHI-PROJECT-26292032, KAKENHI-PROJECT-26293179, KAKENHI-PROJECT-26713005, KAKENHI-PUBLICLY-15H01545, KAKENHI-PUBLICLY-15H01572, KAKENHI-ORGANIZER-25111001, KAKENHI-PLANNED-25111003, KAKENHI-PROJECT-25220103, KAKENHI-PROJECT-26253094, KAKENHI-PROJECT-16H05291, KAKENHI-PROJECT-16J00431, KAKENHI-PROJECT-26293070, KAKENHI-PROJECT-26293207, KAKENHI-PROJECT-25711005, KAKENHI-PROJECT-26430050, KAKENHI-PROJECT-15K06791, KAKENHI-PROJECT-15K08376, KAKENHI-PROJECT-15K10908, KAKENHI-PROJECT-15K11079, KAKENHI-PROJECT-15K12749, KAKENHI-PROJECT-16K15194, KAKENHI-PROJECT-16K15790, KAKENHI-PROJECT-16K15853, KAKENHI-PROJECT-15K16486, KAKENHI-PROJECT-16H05107, KAKENHI-PROJECT-20H03453
[Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome2016
- Author(s)
  Suzuki T, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 90 Issue: 6 Pages: 526-535
- DOI
  10.1111/cge.12836
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-16K04802
[Journal Article] A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition2016
- Author(s)
  Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, Saitsu H, Matsumoto N, Osaka H, Yamagata T
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 10 Pages: 959-963
- DOI
  10.1016/j.braindev.2016.06.002
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.2016
- Author(s)
  Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H.
- Journal Title
  
  Birth Defects Res A Clin Mol Teratol
  
  Volume: 106 Issue: 4 Pages: 304-307
- DOI
  10.1002/bdra.23488
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016
- Author(s)
  Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 10 Pages: 899-902
- DOI
  10.1038/jhg.2016.64
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.2016
- Author(s)
  Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 30072-30072
- DOI
  10.1038/srep30072
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-16K08523, KAKENHI-INTERNATIONAL-15K21731
[Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations2016
- Author(s)
  Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 6 Pages: 527-531
- DOI
  10.1038/jhg.2016.9
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity2016
- Author(s)
  Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S
- Journal Title
  
  J Med Genet
  
  Volume: 53 Issue: 8 Pages: 568-574
- DOI
  10.1136/jmedgenet-2016-103756
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05506
[Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016
- Author(s)
  Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 98 Issue: 4 Pages: 615-626
- DOI
  10.1016/j.ajhg.2016.02.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860781, KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16K19626
[Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2016
- Author(s)
  *Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 61(9) Issue: 9 Pages: 839-842
- DOI
  10.1038/jhg.2016.56
- NAID
  40020938230
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-16K11264, KAKENHI-PROJECT-16K11284
[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016
- Author(s)
  Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 7 Pages: 285-92
- DOI
  10.1038/jhg.2016.27
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K10367
[Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.2016
- Author(s)
  Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 5 Pages: 381-387
- DOI
  10.1038/jhg.2016.1
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia2016
- Author(s)
  Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 5 Pages: 451-455
- DOI
  10.1038/jhg.2015.163
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.2016
- Author(s)
  Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 22985-22985
- DOI
  10.1038/srep22985
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.2016
- Author(s)
  Behnam M, Imagawa E, Chaleshtori AR, Ronasian F, Salehi M, Miyake N, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 61 Issue: 2 Pages: 177-179
- DOI
  10.1038/jhg.2015.127
- NAID
  40020742278
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux2016
- Author(s)
  Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 9 Pages: 835-838
- DOI
  10.1038/jhg.2016.54
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing2016
- Author(s)
  Kameta E, Sugimori K, Kaneko T, Ishii T, Miwa H, Sato T, Ishii Y, Sue S, Sasaki T, Yamashita Y, Shibata W, Matsumoto N, Maeda S
- Journal Title
  
  Oncol Lett
  
  Volume: 12 Issue: 5 Pages: 3875-3881
- DOI
  10.3892/ol.2016.5168
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutires syndrome 6 are phenotypic variants caused by ADAR1 mutations.2016
- Author(s)
  Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Matsumoto K, Moriwaki S, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.
- Journal Title
  
  J Invest Dermatol.
  
  Volume: 136 Issue: 4 Pages: 875-8
- DOI
  10.1016/j.jid.2015.12.034
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24591646, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K15414, KAKENHI-PROJECT-16K15546, KAKENHI-PROJECT-15H04886
[Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.2016
- Author(s)
  Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
- Journal Title
  
  Hum Genet.
  
  Volume: 135(1) Issue: 1 Pages: 61-68
- DOI
  10.1007/s00439-015-1611-0
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-25293235, KAKENHI-PLANNED-24118007
[Journal Article] The molecular and phenotypic spectrum of IQSEC2-related epilepsy2016
- Author(s)
  Zerem A, et al., Matsumoto N, et al.
- Journal Title
  
  Epilepsia
  
  Volume: 57 Issue: 11 Pages: 1858-1869
- DOI
  10.1111/epi.13560
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160
[Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015
- Author(s)
  Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 97(4) Issue: 4 Pages: 555-566
- DOI
  10.1016/j.ajhg.2015.08.013
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461246, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-26293203
[Journal Article] De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features2015
- Author(s)
  Afifi H, Fukai R, Miyake N, Gamal E, Din A, Eid M, Eid O, Thomas M, El-Badry T, Tosson A, Abdel-Salam G, Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 167(10) Issue: 10 Pages: 2418-2424
- DOI
  10.1002/ajmg.a.37185
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation2015
- Author(s)
  Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Matsumoto N, Sasaki M
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 167(5) Issue: 5 Pages: 1100-1106
- DOI
  10.1002/ajmg.a.36881
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.2015
- Author(s)
  Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 2 Issue: 1 Pages: 15034-15034
- DOI
  10.1038/hgv.2015.34
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.2015
- Author(s)
  Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H.
- Journal Title
  
  BMC Genomics.
  
  Volume: 16 Issue: 1 Pages: 624-624
- DOI
  10.1186/s12864-015-1833-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860137, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-ORGANIZER-25112001, KAKENHI-PLANNED-25112010, KAKENHI-PROJECT-15H05579, KAKENHI-PROJECT-14J04310, KAKENHI-PLANNED-25114004
[Journal Article] SPTAN1 encephalopathy: distinct phenotypes and genotypes2015
- Author(s)
  Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60(4) Issue: 4 Pages: 167-173
- DOI
  10.1038/jhg.2015.5
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085
[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015
- Author(s)
  Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
- Journal Title
  
  Epilepsia
  
  Volume: 印刷中 Issue: 6 Pages: 841-848
- DOI
  10.1111/epi.12987
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(2) Issue: 2 Pages: 97-101
- DOI
  10.1038/jhg.2014.103
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.2015
- Author(s)
  Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N
- Journal Title
  
  J Neurol
  
  Volume: 262(5) Issue: 5 Pages: 1278-1284
- DOI
  10.1007/s00415-015-7705-8
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation2015
- Author(s)
  Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
- Journal Title
  
  J Hum Genet
  
  Volume: 60 Issue: 4 Pages: 187-191
- DOI
  10.1038/jhg.2015.7
- NAID
  40020433141
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26670445, KAKENHI-PROJECT-25293207, KAKENHI-PROJECT-25293235
[Journal Article] Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder2015
- Author(s)
  Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N
- Journal Title
  
  J Headache Pain
  
  Volume: 16(1) Issue: 1 Pages: 519-519
- DOI
  10.1186/s10194-015-0519-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005
[Journal Article] Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst2015
- Author(s)
  Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S
- Journal Title
  
  PLoS One
  
  Volume: 10(11) Issue: 11 Pages: e0142126-e0142126
- DOI
  10.1371/journal.pone.0142126
- NAID
  120005763410
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
- Journal Title
  
  Ann. Neurol.
  
  Volume: 78 Issue: 3 Pages: 375-386
- DOI
  10.1002/ana.24444
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06736, KAKENHI-PROJECT-15K06751, KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-25430064, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Panventriculomegaly with a wide foramen of Magendie and large cisterna magna.2015
- Author(s)
  Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, Madoka Nakajima, Kazuaki Shimoji, Ryoko Fukai, Noriko Miyake, Kenichi Nishiyama, Naomichi Matsumoto, Hajime Arai
- Journal Title
  
  Journal of Neurosurgery
  
  Volume: E-pub Issue: 6 Pages: 1-9
- DOI
  10.3171/2015.6.jns15162
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26293326, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26462218
[Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 1 Issue: 4 Pages: 124-124
- DOI
  10.1038/jhg.2014.124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015
- Author(s)
  Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
- Journal Title
  
  Sci Rep
  
  Volume: 5 Issue: 1 Pages: 15199-15199
- DOI
  10.1038/srep15199
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-15H05871
[Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2015
- Author(s)
  Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: Epub 2015 Nov 27. Issue: 1
- DOI
  10.1111/epi.13257
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.2015
- Author(s)
  Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
- Journal Title
  
  Pediatr Int.
  
  Volume: 57 Issue: 2 Pages: 324-326
- DOI
  10.1111/ped.12613
- NAID
  120005666180
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy2015
- Author(s)
  Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 60(10) Issue: 10 Pages: 631-635
- DOI
  10.1038/jhg.2015.72
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25293235
[Journal Article] Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).2015
- Author(s)
  Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Issue: 1 Pages: 15015-15015
- DOI
  10.1038/hgv.2015.12
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-26461549, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015
- Author(s)
  Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
- Journal Title
  
  JAMA Neurology
  
  Volume: 72 Issue: 7 Pages: 797-805
- DOI
  10.1001/jamaneurol.2015.0610
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09335, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-221S0002, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25461287
[Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2015
- Author(s)
  ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
- Journal Title
  
  Epilepsia
  
  Volume: 57 Issue: 4 Pages: 566-573
- DOI
  10.1111/epi.13344
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.2015
- Author(s)
  Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K, Sasaki T.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Issue: 1 Pages: 15024-15024
- DOI
  10.1038/hgv.2015.24
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461723, KAKENHI-PROJECT-26461712, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15H04709
[Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).2015
- Author(s)
  Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167 Issue: 3 Pages: 592-601
- DOI
  10.1002/ajmg.a.36942
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591610, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-26461620, KAKENHI-PLANNED-24118007
[Journal Article] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.2015
- Author(s)
  Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(5) Issue: 5 Pages: 277-279
- DOI
  10.1038/jhg.2015.13
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Electroclinical features of epileptic encephalopathy caused by SCN8A mutation2015
- Author(s)
  Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H
- Journal Title
  
  Pediatrics International
  
  Volume: 57(4) Issue: 4 Pages: 758-762
- DOI
  10.1111/ped.12622
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family2015
- Author(s)
  Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, Tokita Y
- Journal Title
  
  Plos One
  
  Volume: 10(6) Issue: 6 Pages: e0128227-e0128227
- DOI
  10.1371/journal.pone.0128227
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De novo SHANK3 mutation causes a female patient with Rett syndrome like phenotype.2015
- Author(s)
  Hara M, Ohba C, Yamashita Y, Saitsu H, Matsumoto N, Matsuishi T.
- Journal Title
  
  J Med Genet Part A
  
  Volume: 167(7) Issue: 7 Pages: 1593-1596
- DOI
  10.1002/ajmg.a.36775
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26860832
[Journal Article] Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.2014
- Author(s)
  Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.
- Journal Title
  
  Hum Mutat
  
  Volume: 36（2） Issue: 2 Pages: 191-5
- DOI
  10.1002/humu.22731
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001
[Journal Article] Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?2014
- Author(s)
  Kutuk MS, Balta B, Kodera H, Matsumoto N, Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M.
- Journal Title
  
  Childs Nerv Syst
  
  Volume: 30 Issue: 3 Pages: 419-424
- DOI
  10.1007/s00381-013-2338-7
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019
[Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014
- Author(s)
  Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
- Journal Title
  
  Neurogenet
  
  Volume: 15（3） Issue: 3 Pages: 193-200
- DOI
  10.1007/s10048-014-0408-y
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] Clinical exome sequencing in neurology practice2014
- Author(s)
  Miyatake S,Matsumoto N.
- Journal Title
  
  Nat Rev Neurol
  
  Volume: 10（12） Issue: 12 Pages: 676-678
- DOI
  10.1038/nrneurol.2014.213
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-26461549
[Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features2014
- Author(s)
  Kato M, Saitsu H, Murakami Y , Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
- Journal Title
  
  Neurology
  
  Volume: 82（18） Issue: 18 Pages: 1587-1596
- DOI
  10.1212/wnl.0000000000000389
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.2014
- Author(s)
  Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
- Journal Title
  
  Brain Dev
  
  Volume: 36 Issue: 3 Pages: 272-273
- DOI
  10.1016/j.braindev.2013.03.007
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25860915
[Journal Article] Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.2014
- Author(s)
  Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh R, Nakashima M, Saitsu H, Miyake N, Saito S, Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 85 Issue: 6 Pages: 592-594
- DOI
  10.1111/cge.12215
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23590406, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-26460422
[Journal Article] A hemizygous GYG2 mutation and Leigh syndrome: a possible link?2014
- Author(s)
  Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
- Journal Title
  
  Hum Genet.
  
  Volume: 133(2 Issue: 2 Pages: 225-34
- DOI
  10.1007/s00439-013-1372-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23687025, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25461652, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331
[Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated2014
- Author(s)
  Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
- Journal Title
  
  Neurology
  
  Volume: 82(24) Issue: 24 Pages: 2230-7
- DOI
  10.1212/wnl.0000000000000535
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549
[Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014
- Author(s)
  Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
- Journal Title
  
  Sci Rep
  
  Volume: 4 Issue: 1 Pages: 7132-7132
- DOI
  10.1038/srep07132
- NAID
  120007100602
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293207, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26440105, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670445
[Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain2014
- Author(s)
  Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（5） Issue: 5 Pages: 292-295
- DOI
  10.1038/jhg.2014.18
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014
- Author(s)
  Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
- Journal Title
  
  Neuromuscul Disord
  
  Volume: 24（7） Issue: 7 Pages: 642-647
- DOI
  10.1016/j.nmd.2014.04.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014
- Author(s)
  Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（8） Issue: 8 Pages: 471-474
- DOI
  10.1038/jhg.2014.51
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome2014
- Author(s)
  Miyake N, Tsurusaki Y, Matsumoto N.
- Journal Title
  
  Am J Med Genet Part C
  
  Volume: 166c（3） Issue: 3 Pages: 257-261
- DOI
  10.1002/ajmg.c.31406
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Ehlers-danlos syndrome associated with glycosaminoglycan abnormalities2014
- Author(s)
  Miyake N, Kosho T, Matsumoto N
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 802 Pages: 145-159
- DOI
  10.1007/978-94-007-7893-1_10
- ISBN
  9789400778924, 9789400778931
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25460405
[Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes2014
- Author(s)
  Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
- Journal Title
  
  Clin Genet
  
  Volume: 85（4） Issue: 4 Pages: 396-398
- DOI
  10.1111/cge.12188
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-26860816
[Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel2014
- Author(s)
  Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
- Journal Title
  
  Hum Mol Genet
  
  Volume: 24（3） Issue: 3 Pages: 637-648
- DOI
  10.1093/hmg/ddu477
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25670149, KAKENHI-PROJECT-26461549, KAKENHI-PLANNED-24118007
[Journal Article] A Japanese girl　with an early-infantile onset vanishing white matter disease resembling Cree　leukoencephalopathy.2014
- Author(s)
  Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S,
- Journal Title
  
  Brain Dev.
  
  Volume: 37(6) Issue: 6 Pages: 638-42
- DOI
  10.1016/j.braindev.2014.10.002
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-26461522, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy2014
- Author(s)
  Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Clin Genet
  
  Volume: 87(4) Issue: 4 Pages: 356-361
- DOI
  10.1111/cge.12394
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25860915
[Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy2014
- Author(s)
  Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H .
- Journal Title
  
  Neurogenet
  
  Volume: 15（2） Issue: 2 Pages: 85-92
- DOI
  10.1007/s10048-013-0384-7
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa2014
- Author(s)
  Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
- Journal Title
  
  Plos One
  
  Volume: 9（9） Issue: 9 Pages: e108721-e108721
- DOI
  10.1371/journal.pone.0108721
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25462744, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-26462674, KAKENHI-PROJECT-26670762
[Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014
- Author(s)
  Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 7 Pages: 994-1000
- DOI
  10.1111/epi.12668
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Coffin-Siris syndrome is a SWI/SNF complex disorder2014
- Author(s)
  Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N.
- Journal Title
  
  Clin Genet
  
  Volume: 85（6） Issue: 6 Pages: 548-554
- DOI
  10.1111/cge.12225
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235
[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014
- Author(s)
  Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
- Journal Title
  
  Nat Commun
  
  Volume: 5 Issue: 1 Pages: 4011-4011
- DOI
  10.1038/ncomms5011
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26860816
[Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.2014
- Author(s)
  Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 164 Issue: 1 Pages: 231-236
- DOI
  10.1002/ajmg.a.36228
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2014
- Author(s)
  Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
- Journal Title
  
  Clin Genet
  
  Volume: 87（4） Issue: 4 Pages: 395-397
- DOI
  10.1111/cge.12455
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation.2013
- Author(s)
  Daisuke Kurotaki et al.
- Journal Title
  
  Blood
  
  Volume: 121 Issue: 10 Pages: 1839-1849
- DOI
  10.1182/blood-2012-06-437863
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23590343, KAKENHI-PROJECT-23659492, KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390246, KAKENHI-PROJECT-24790322, KAKENHI-PLANNED-24118002
[Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013
- Author(s)
  Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
- Journal Title
  
  Neurology
  
  Volume: 81 Issue: 11 Pages: 992-998
- DOI
  10.1212/wnl.0b013e3182a43e57
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like.2013
- Author(s)
  Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161A Issue: 7 Pages: 1543-1546
- DOI
  10.1002/ajmg.a.35983
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013
- Author(s)
  Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 6 Pages: 1221-1237
- DOI
  10.1002/ajmg.a.35933
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing.2013
- Author(s)
  Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.p
- Journal Title
  
  Mol Vis
  
  Volume: 19 Pages: 384-389
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24249019
[Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013
- Author(s)
  Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Issue: 1 Pages: 6-18
- DOI
  10.1016/j.ajhg.2013.05.004
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013
- Author(s)
  Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
- Journal Title
  
  Hum Mutat
  
  Volume: 34 Issue: 12 Pages: 1708-1714
- DOI
  10.1002/humu.22446
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-23591497, KAKENHI-PUBLICLY-24110501, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome.2013
- Author(s)
  Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 Issue: 10 Pages: 2576-2581
- DOI
  10.1002/ajmg.a.36083
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation.2013
- Author(s)
  *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
- Journal Title
  
  Intern Med
  
  Volume: 52 Pages: 1629-1633
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24249019
[Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.2013
- Author(s)
  Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Plos One
  
  Volume: 8 Issue: 9 Pages: e74167-e74167
- DOI
  10.1371/journal.pone.0074167
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing.2013
- Author(s)
  Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.
- Journal Title
  
  Mol Vis
  
  Volume: 19 Pages: 384-389
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007
[Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy2013
- Author(s)
  Gupta V, Shiina M, Ogata K, Matsumoto N, Beggs N et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Issue: 6 Pages: 1108-1117
- DOI
  10.1016/j.ajhg.2013.10.020
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019
[Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome.2013
- Author(s)
  Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 12 Pages: 822-824
- DOI
  10.1038/jhg.2013.104
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013
- Author(s)
  Nakamura, K., et al.,
- Journal Title
  
  Am. J. Hum. Genet.
  
  Volume: 93 Issue: 3 Pages: 496-505
- DOI
  10.1016/j.ajhg.2013.07.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500444, KAKENHI-PROJECT-23612008, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24659508, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene2013
- Author(s)
  Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C
- Journal Title
  
  Proc Natl Acad Sci U S A
  
  Volume: 110 Issue: 40 Pages: 16139-16144
- DOI
  10.1073/pnas.1308243110
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592603, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235
[Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation.2013
- Author(s)
  *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
- Journal Title
  
  Intern Med
  
  Volume: 52 Pages: 1629-1633
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007
[Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood2013
- Author(s)
  Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima, Matsumoto N
- Journal Title
  
  Nat Genet
  
  Volume: 45 Issue: 4 Pages: 445-449
- DOI
  10.1038/ng.2562
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2013
- Author(s)
  98. Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M,
- Journal Title
  
  Brain Dev.
  
  Volume: May 3 Issue: 3 Pages: 259-263
- DOI
  10.1016/j.braindev.2013.03.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485
[Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia2013
- Author(s)
  Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 6 Pages: 391-394
- DOI
  10.1038/jhg.2013.25
- NAID
  10031184228
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter.2013
- Author(s)
  Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 Issue: 8 Pages: 1904-1909
- DOI
  10.1002/ajmg.a.36026
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome.2013
- Author(s)
  Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 9 Pages: 2234-2243
- DOI
  10.1002/ajmg.a.36072
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23590383, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24591531, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy2013
- Author(s)
  Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
- Journal Title
  
  Mov Disord
  
  Volume: 28 Issue: 4 Pages: 552-553
- DOI
  10.1002/mds.25296
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.2013
- Author(s)
  Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 Issue: 9 Pages: 2291-2293
- DOI
  10.1002/ajmg.a.35861
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019
[Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013
- Author(s)
  Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
- Journal Title
  
  Neurogenet
  
  Volume: 14 Issue: 3-4 Pages: 225-232
- DOI
  10.1007/s10048-013-0375-8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390261, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation2013
- Author(s)
  Miyake N^<#>, Yano S^<#> (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N
- Journal Title
  
  Hum Mut
  
  Volume: 34(3):446-452 Issue: 3 Pages: 446-452
- DOI
  10.1002/humu.22257
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893
[Journal Article] A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.2013
- Author(s)
  Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161A Issue: 5 Pages: 1073-1077
- DOI
  10.1002/ajmg.a.35661
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235
[Journal Article] Mutations in B3GALT6 which Encodes a Glycosaminoglycan Linker Region Enzyme Cause a Spectrum of Skeletal and Connective Tissue Disorders2013
- Author(s)
  Masahiro Nakajima, Shuji Mizumoto et al.
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: in press Issue: 6 Pages: 927-934
- DOI
  10.1016/j.ajhg.2013.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23790066, KAKENHI-PROJECT-24592230, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860037, KAKENHI-PROJECT-25860915
[Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013
- Author(s)
  Kato M, …Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: in press Issue: 7 Pages: 1282-7
- DOI
  10.1111/epi.12200
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Y-chromosome-linked B- and NK-cell deficiency in mice2013
- Author(s)
  Sun SL, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Funayama R, Kondo M, Saitsu H, Matumoto N, Nakayama K, and Ishii N
- Journal Title
  
  J. Immunol.
  
  Volume: 190 Issue: 12 Pages: 6209-6220
- DOI
  10.4049/jimmunol.1300303
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-11J06848, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390118, KAKENHI-PROJECT-24390121, KAKENHI-PROJECT-24659487, KAKENHI-PROJECT-24700951
[Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013
- Author(s)
  Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: 54 Issue: 7 Pages: 1262-1269
- DOI
  10.1111/epi.12203
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] KDM6A point mutations cause Kabuki syndrome2012
- Author(s)
  Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding)
- Journal Title
  
  Hum Mut
  
  Volume: 34(1):108-110 Issue: 1 Pages: 108-110
- DOI
  10.1002/humu.22229
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005
[Journal Article] Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome.2012
- Author(s)
  Saitsu H, et al, Matsumoto N.
- Journal Title
  
  Ann Neurol
  
  Volume: 72 Pages: 298-230
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] De novo and inherited mutations in the gene encoding a type IV collagen α2 chain (COL4A2) cause porencephaly.2012
- Author(s)
  Yoneda Y, et al., Matsumoto N, et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Pages: 86-90
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 81(4):399-402 Issue: 4 Pages: 86-90
- DOI
  10.1111/j.1399-0004.2011.01733.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
[Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods : resequencing microarray technology and next-generation sequencing2012
- Author(s)
  Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N
- Journal Title
  
  Hum Genet
  
  Volume: 131巻 Issue: 4 Pages: 591-599
- DOI
  10.1007/s00439-011-1105-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23592045, KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001
[Journal Article] CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia2012
- Author(s)
  Saitsu H, et al., Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 53 Pages: 1441-1449
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Ann Neurol
  
  Volume: 72(2):298-300 Issue: 2 Pages: 298-300
- DOI
  10.1002/ana.23620
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods : resequencing microarray technology and next-generation sequencing2012
- Author(s)
  Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N.
- Journal Title
  
  Human Genetics
  
  Volume: 131(4) Pages: 591-599
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592045
[Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Epilepsia
  
  Volume: 53(8):1441-1449 Issue: 8 Pages: 1441-1449
- DOI
  10.1111/j.1528-1167.2012.03548.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001
[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.2012
- Author(s)
  Tsurusaki Y, et al., Matsumoto N.
- Journal Title
  
  Nat Genet
  
  Volume: 44 Pages: 376-378
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant2011
- Author(s)
  Miyake N, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 293-296
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] CANT1 is also responsible for Desbuquois dysplasia, type 2 and Kim variant2011
- Author(s)
  Furuichi T, et al., Matsumoto N, et al
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 32-37
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011
- Author(s)
  Doi H, et al., Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Pages: 320-327
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy2011
- Author(s)
  Tsurusaki Y, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 161-166
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion : Report of a new patient2011
- Author(s)
  Tohyama J, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 130-131
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: (in press) Issue: 1 Pages: 2879-84
- DOI
  10.1002/ajmg.a.34363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-24591500
[Journal Article] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) in an infant with Down syndrome2011
- Author(s)
  Narumi Y, et al., Matsumoto N, et al
- Journal Title
  
  Clin Dysmorphol
  
  Volume: 20 Pages: 166-167
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty2011
- Author(s)
  Hiraki Y, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 152 Pages: 409-414
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing.j2011
- Author(s)
  Tsurusaki Y, et al., Matsumoto N, et al
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 606-609
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90(1) Pages: 86-90
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa2011
- Author(s)
  Tadaki H, et al., Matsumoto N
- Journal Title
  
  Int J Immunogenet
  
  Volume: 38 Pages: 287-293
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis2011
- Author(s)
  Tadaki H, et al., Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 343-347
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy2011
- Author(s)
  Tsurusaki Y, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 161-166
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : Observation of two additional patients and comprehensive review of 20 reported patients2011
- Author(s)
  Shimizu K, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 1949-1958
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia2011
- Author(s)
  Dai J, et al., Matsumoto N, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 398-400
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Paternal mosaicism of a STXBP1 mutation in Ohtahara syndrome2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 484-488
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly2011
- Author(s)
  Yoneda Y, et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Issue: 1 Pages: 86-90
- DOI
  10.1016/j.ajhg.2011.11.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
[Journal Article] A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty2011
- Author(s)
  Hiraki Y, et al, Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 152 Pages: 409-414
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Paternal mosaicism of a STXBP1 mutation in Ohtahara syndrome2011
- Author(s)
  Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N.
- Journal Title
  
  Clin Genet
  
  Volume: 80(5) Pages: 484-488
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy2011
- Author(s)
  Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(11) Issue: 11 Pages: 2879-2884
- DOI
  10.1002/ajmg.a.34289
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2(SRGAP2)2011
- Author(s)
  Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 158(1) Pages: 199-205
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90(1) Pages: 86-90
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011
- Author(s)
  Hannibal MC, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 1511-1516
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Breakpoint determination of X ; autosome balanced translocations in four patients with premature ovarian failure2011
- Author(s)
  Nishimura-Tadaki A, et al., Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 52 Pages: 156-160
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011
- Author(s)
  Doi H, Yoshida K, T Yasuda, Fukuda M, Fukuda Y, Morita H, Ikeda S-i, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89(2) Pages: 320-327
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Genetic commentary : De novo mutations in epilepsy2011
- Author(s)
  Saitsu H, Matsumoto N
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: 53 Pages: 806-807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Genetic commentary : De novo mutations in epilepsy2011
- Author(s)
  Saitsu H, Matsumoto N
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: 53 Pages: 806-807
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011
- Author(s)
  Doi H, et al., Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Pages: 320-327
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Paternal mosaicism of a STXBP1 mutation in Ohtahara Syndrome2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 484-488
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant2011
- Author(s)
  Miyake N, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 293-296
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Pages: 86-90
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Familial Simpson-Golabi-Behmel syndrome : Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations2011
- Author(s)
  Yano S, et al., Matsumoto N, et al
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 466-471
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A homozygous Mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPDI) with associated pigmentary disorder2011
- Author(s)
  Abdel-Salam GMH, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 2885-2896
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing2011
- Author(s)
  Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
- Journal Title
  
  J Med Genet
  
  Volume: 48(9) Pages: 606-609
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis2011
- Author(s)
  Tadaki H, et al., Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 343-347
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A response to : Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "Dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Which name is appropriate, "Adducted thumb-clubfoot syndrome" or "Ehlers-Danlos syndrome"?2011
- Author(s)
  Kosho T, et al., Matsumoto N
- Journal Title
  
  Hum Mut
  
  Volume: 32 Pages: 1507-1509
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 158 Pages: 199-205
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 158 Pages: 199-205
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] CANT1 is also responsible for Desbuquois dysplasia, type 2 and Kim variant2011
- Author(s)
  Furuichi T, et al., Matsumoto N, et al
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 32-37
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Breakpoint determination of X ; autosome balanced translocations in four patients with premature ovarian failure2011
- Author(s)
  Nishimura-Tadaki A, et al., Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 52 Pages: 156-160
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Familial Simpson-Golabi-Behmel syndrome : Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations2011
- Author(s)
  Yano S, et al., Matsumoto N, et al
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 466-471
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, et al., Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Pages: 86-90
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Genetic commentary : De novo mutations in epilepsy2011
- Author(s)
  Saitsu H, Matsumoto N.
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: 53(9) Pages: 806-807
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia2011
- Author(s)
  Dai J, et al., Matsumoto N, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 398-400
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011
- Author(s)
  Hannibal MC, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 1511-1516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing.j2011
- Author(s)
  Tsurusaki Y, et al., Matsumoto N, et al
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 606-609
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] A homozygous Mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder2011
- Author(s)
  Abdel-Salam GMH, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 2885-2896
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion : Report of a new patient2011
- Author(s)
  Tohyama J, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 130-131
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome : clinical, molecular-cytogenetic, and DNA array analyses on three patients with chromosomal defects at 6p252011
- Author(s)
  Tonoki H, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 2925-2932
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] A response to : Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "Dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Which name is appropriate, "Adducted thumb-clubfoot syndrome" or "Ehlers-Danlos syndrome"?2011
- Author(s)
  Kosho T, et al., Matsumoto N
- Journal Title
  
  Hum Mut
  
  Volume: 32 Pages: 1507-1509
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : Observation of two additional patients and comprehensive review of 20 reported patients2011
- Author(s)
  Shimizu K, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 1949-1958
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) in an infant with Down syndrome2011
- Author(s)
  Narumi Y, et al., Matsumoto N, et al
- Journal Title
  
  Clin Dysmorphol
  
  Volume: 20 Pages: 166-167
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-23110513
[Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa2011
- Author(s)
  Tadaki H, et al., Matsumoto N
- Journal Title
  
  Int J Immunogenet
  
  Volume: 38 Pages: 287-293
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome : clinical, molecular-cytogenetic, and DNA array analyses on three patients with chromosomal defects at 6p252011
- Author(s)
  Tonoki H, et al., Matsumoto N, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 155 Pages: 2925-2932
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] SMOC1 is essential for ocular and limb development in humans and mice2011
- Author(s)
  kada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
- Journal Title
  
  Am J Hum Genet
  
  Volume: 88(1) Pages: 30-41
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy2011
- Author(s)
  Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N.
- Journal Title
  
  Clin Genet
  
  Volume: 80(2) Pages: 161-166
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Functional characterization of the zebrafish WHSC1-related gene, a homologue of human NSD2.2010
- Author(s)
  Yamada-Okabe T, others, Matsumoto N
- Journal Title
  
  Biochem Biophys Res Commun
  
  Volume: 402 Pages: 335-339
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2 : Clinical features and (99m)Tc-ECD brain perfusion SPECT findings.2010
- Author(s)
  Doi H, others, Matsumoto N, others.
- Journal Title
  
  J Neurol Sci
  
  Volume: 290 Pages: 172-176
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination spastic quadriplegia, and developmental delay2010
- Author(s)
  Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86(6) Pages: 881-889
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome2010
- Author(s)
  Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki T, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
- Journal Title
  
  Hum Mut
  
  Volume: 31(8) Pages: 966-974
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene2010
- Author(s)
  Kanazawa K, Kumada S, Kato M, Saitsu H, Kurihara E, Matsumoto N
- Journal Title
  
  Mov Disord
  
  Volume: 25(13) Pages: 2265-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312
[Journal Article] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
- Journal Title
  
  Human Mutation (8)
  
  Pages: 966-974
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease2010
- Author(s)
  Osaka H, Yamamoto R, Hamanoue H, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.
- Journal Title
  
  Ann Neurol
  
  Volume: 68(2) Pages: 250-254
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern.2010
- Author(s)
  Saitsu H, others, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 51 Pages: 2397-2405
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.2010
- Author(s)
  Saitsu H, others, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86 Pages: 881-889
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Congenital Multiple Contractures, and Progressive Joint and Skin Laxity and Multisystem Fragility related Manifestations.2010
- Author(s)
  Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N.
- Journal Title
  
  American Journal of Medical Genetics A (152)
  
  Pages: 1333-1346
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.2010
- Author(s)
  Nishimura A, others, Matsumoto N
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1322-1325
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.2010
- Author(s)
  Kosho T, others, Matsumoto N
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1333-1346
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease.2010
- Author(s)
  Osaka H, others, Matsumoto N, Inoue K
- Journal Title
  
  Ann Neurol
  
  Volume: 68 Pages: 250-254
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010
- Author(s)
  Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86(6) Pages: 881-889
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Analysis of an insertion mutation in a cohort of 93 patients with spinocerebellar ataxia type 31 (SCA31) from Nagano, Japan.2010
- Author(s)
  Sakai H, others, Matsumoto N
- Journal Title
  
  Neurogenet
  
  Volume: 11 Pages: 409-415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, others, Matsumoto N
- Journal Title
  
  Hum Mut
  
  Volume: 31 Pages: 966-974
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern2010
- Author(s)
  Saitsu H, Kato M, Okada I, Orii KE, Kondo N, Wada T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Osaka H, Hayasaka K, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 51(12) Pages: 2397-2405
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.2010
- Author(s)
  Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
- Journal Title
  
  Genesis 48(in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.2010
- Author(s)
  Komoike Y, others, Matsumoto N, others
- Journal Title
  
  Genesis
  
  Volume: 48 Pages: 233-243
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice : Wnt7a suppresses nail-like structure development in mice.2010
- Author(s)
  Kimura S, others, Matsumoto N, Ishibashi M.
- Journal Title
  
  Birth Defects Res A Clin Mol Teratol
  
  Volume: 88 Pages: 487-496
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.2010
- Author(s)
  Ng S, others, Matsumoto N, others
- Journal Title
  
  Nat Genet
  
  Volume: 42 Pages: 790-793
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.2010
- Author(s)
  Kanazawa K, others, Matsumoto N
- Journal Title
  
  Mov Disord
  
  Volume: 25 Pages: 2265-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A case of Baraitser-Winter syndrome with unusual brain MRI findings of pachygyria, subcortical band heterotopia and periventricular heter otopias.2010
- Author(s)
  Shiihara T, others, Matsumoto N, others.
- Journal Title
  
  Brain Dev
  
  Volume: 32 Pages: 502-505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A New Ehlers-Danlos syndrome with Craniofacial characteristics, congenital mltiple contractures, and progressive joint and skin laxity and multisystem fragility-related manifestations.2010
- Author(s)
  Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawanura R, Wakui K, Fuushima Y, Matsumoto N.
- Journal Title
  
  American Journal of Medical Genetics A (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010
- Author(s)
  Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, Beck A, Tabor H, Cooper G, Mefford H, Lee C, Turner E, Smith J, Rieder M, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson D, Bamshad M, Shendure J.
- Journal Title
  
  Nat Genet
  
  Volume: 42(9) Pages: 790-793
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A locus for Ophthalmo-acromelic syndrome mapped to 10p11.23.2009
- Author(s)
  Hamanoue H, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 149A
  
  Pages: 336-342
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Gene analysis of Marfan syndrome.2009
- Author(s)
  Matsumoto N
- Journal Title
  
  Proceedings of VIII annual international symposium on advances in understanding aortic diseases. 1
  
  Pages: 23-27
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Asymmetry of prefrontal cortex activities and catechol-O-methyttransferase Val158 Met genotype in patients with panic disorder during a verbal fluency task : near infrared spectroscopy study.2009
- Author(s)
  Tanii H, Nishimura Y, Inoue K, Koshimizu H, Matsumoto R, Takami T, Hara N, Nishida A, Okada M, Kaiya H, Okazaki Y
- Journal Title
  
  Neuroscience Letters 452
  
  Pages: 63-67
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019029
[Journal Article] Gene screening of 104 patients with congenital heart disease revealed a fresh GATA4 mutation in atrial septal defect.2009
- Author(s)
  Hamanoue H, others, Matsumoto N.
- Journal Title
  
  Cardiol Young 19
  
  Pages: 482-485
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Janan2009
- Author(s)
  Yoshida K, others, Matsumoto N, others
- Journal Title
  
  Cerebellum 8
  
  Pages: 46-51
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss2009
- Author(s)
  Saitsu H, others, Matsumoto N.
- Journal Title
  
  Am J Med Genet 149A
  
  Pages: 1224-1230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.2009
- Author(s)
  Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J, Yokoyana U, Mizuguchi T, Saitsu H, Miyake N, Hirahara F, Matsumoto N.
- Journal Title
  
  Cardiology in the young 13
  
  Pages: 1-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
- Author(s)
  Kuniba H, others, Matsumoto N, others
- Journal Title
  
  J Hum Genet 54
  
  Pages: 304-309
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] A locus for Ophthalmo-acromelic syndrome mapped to 10p11.23.2009
- Author(s)
  Hamanoue H, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 149A
  
  Pages: 336-342
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Japan.2009
- Author(s)
  Yoshida K, others, Matsumoto N, others
- Journal Title
  
  Cerebellum 8
  
  Pages: 46-51
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Gene analysis of Marfan syndrome2009
- Author(s)
  Matsumoto N
- Journal Title
  
  Proceedings of VIII annual international symposium on advances in understanding aortic diseases 1
  
  Pages: 23-27
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Gene screening of 104 patients with congenital heart disease revealed a fresh GATA4 mutation in atrial septal defect2009
- Author(s)
  Hamanoue H, others, Matsumoto N.
- Journal Title
  
  Cardiol Young 19
  
  Pages: 482-485
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss.2009
- Author(s)
  Saitsu H, others, Matsumoto N.
- Journal Title
  
  Am J Med Genet 149A
  
  Pages: 1224-1230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Identification of Independent APP Locus Duplication in Japanese Patients with E arly-Onset Alzheimer's Disease.2009
- Author(s)
  Kasuga K, others, Matsumoto N , others.
- Journal Title
  
  J Neurol Neurosurg Psychiatry 80
  
  Pages: 1050-1052
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.2009
- Author(s)
  Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N.
- Journal Title
  
  American Journal of Human Genetics A 149
  
  Pages: 336-342
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.2009
- Author(s)
  Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N.
- Journal Title
  
  American Journal of Human Genetics A 149
  
  Pages: 1224-1230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Identification of Independent APP Locus Duplication in Japanese Patients with Early-Onset Alzheimer's Disease2009
- Author(s)
  Kasuga K, others, Matsumoto N, others
- Journal Title
  
  J Neurol Neurosurg Psychiatry 80
  
  Pages: 1050-1052
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Asymmetry of prefrontal cortex activities and catechol-O-methyltransferase Val158Met genotype in patients with panic disorder during a verbal fluency task: near infrared spectroscopy study.2009
- Author(s)
  Tanii H, Nishimura Y, Inoue K, Koshimizu H, Matsumoto R, Takami T, Hara N, Nishida A, Okada M, Kaiya H, Okazaki Y
- Journal Title
  
  Neurosci Lett. 452
  
  Pages: 63-67
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019029
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syudrome.2009
- Author(s)
  Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N.
- Journal Title
  
  Journal of Human Genetics 54
  
  Pages: 304-309
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.2009
- Author(s)
  Kuniba H, others, Matsumoto N, others.
- Journal Title
  
  J Hum Genet 54
  
  Pages: 304-309
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Lack of C20orfl33 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan2008
- Author(s)
  Kuniba H, others, Matsumoto N, others
- Journal Title
  
  J Med Genet 45
  
  Pages: 479-480
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncampaction in a girl with 10.5-11.1 Mb terminal deletion of 1p362008
- Author(s)
  Saito S, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 2891-2897
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] CDKL5 disruption by t(X; 18) in a girl with West syndrome2008
- Author(s)
  Nishimura A, others Matsumoto N
- Journal Title
  
  Clin Genet 74
  
  Pages: 288-290
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP222008
- Author(s)
  Ozeki Y, others, Matsumoto N, Kunugi H
- Journal Title
  
  The Open Psychiatry Journal 2
  
  Pages: 1-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Craniosynostosis in a patient with a de novo 15q15-q22 deletion2008
- Author(s)
  Hiraki Y, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 1462-1465
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Two patients with atypical interstitial deletions of 8p23.1 : Mapping of phenotypical traits2008
- Author(s)
  Paez M, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 1158-1165
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  Saitsu H, others, Matsumoto N
- Journal Title
  
  Nat Genet 40
  
  Pages: 782-788
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein (NSD1) or fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2(SET2)2008
- Author(s)
  Yamada-Okabe T, Matsumoto N
- Journal Title
  
  Cell Biochemistry and Function 26
  
  Pages: 146-150
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] De novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008
- Author(s)
  Kosho T, others, Matsumoto N, others
- Journal Title
  
  Clin Dysmorphol 17
  
  Pages: 31-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia2008
- Author(s)
  Mizuguchi T, others, Matsumoto N
- Journal Title
  
  J Hum Genet 53
  
  Pages: 914-919
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein(NSD1) or fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2(SET2)2008
- Author(s)
  Yamada-Okabe T, Matsumoto N
- Journal Title
  
  Cell Biochemistry and Function 26
  
  Pages: 146-150
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Two New Cases of Pure lq Terminal Deletion Presenting With Brain Malformations2008
- Author(s)
  Hiraki Y, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 1241-1247
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome2008
- Author(s)
  Kuniba H, others, Matsumoto N, Niikawa N
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 1893-1896
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] A girl with Down syndrome and partial trisomy for 21pter-q22.13 : A clue to narrow the Down syndrome critical region2008
- Author(s)
  Sato D, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 146A
  
  Pages: 124-127
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Alu-related 5q35 microdeletions in Sotos syndrome2008
- Author(s)
  Mochizuki J, others, Matsumoto N
- Journal Title
  
  Clin Genet 74
  
  Pages: 384-391
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20023024
[Journal Article] Angelman syndrome caused by an identical familial 1487-kb deletion.2007
- Author(s)
  Sato K, others, Matsumoto N.
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 98-101
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Congenital Arhinia:Molecular-genetic Analysis of Five Patients2007
- Author(s)
  SatoK D, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 546-552
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] RET oncogene amplification in thyroid cancer:correlations with radiation-associated and high-grade malignancy.2007
- Author(s)
  Nakashima M, others, Matsumoto N, others.
- Journal Title
  
  Hum Pathol 38
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] A Japanes family of typical Loeys-Dietz syndrome with a TGFBR2 mutation2007
- Author(s)
  Togashi Y, others, Matsumoto N, others
- Journal Title
  
  Internal Medicine 46
  
  Pages: 1995-2000
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Less frequent NSD1-intragenic deletions in Japanese Sotos Syndrome: Analysis of 30 patients by NSD1-exon array CGH,quantitative fluorescent duplex PCR, and fluorescence in situ hybridization.2007
- Author(s)
  Sosonkina N, others, Matsumoto N
- Journal Title
  
  Acta Medica Nagasakiensia 52
  
  Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] RET oncogene amplification in thyroid cancer: correlations with radiation-associated and high-grade malignancy.2007
- Author(s)
  Nakashima M, others, Matsumoto N, others.
- Journal Title
  
  Hum Pathol 38
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] FBN2, FBN1, TFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.2007
- Author(s)
  Nishimura A, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Recent advance in genetics of Marfan syndrome and Marfan-associated disorders.2007
- Author(s)
  Mizuguch T, Matsumoto N
- Journal Title
  
  J Hum Genet 52
  
  Pages: 1-12
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Less frequent NSD1-intragenic deletions in Japanese Sotos syndrome:Analysis of 30 patients by NSD1-exon array CGH,quantitative fluorescent duplex PCR,and fluorescence in situ hybridization.2007
- Author(s)
  Sosonkina N, others, Matsumoto N
- Journal Title
  
  Acta Medica Nagasakiensia 52
  
  Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Congenital Arhinia:Molecular-genetic Analysis of Five Patients.2007
- Author(s)
  Sato D, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 546-552
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Role of DNA methylation and histone H3 Lysine 27 methylation in tissue-specific imprinting of mouse Grb10.2007
- Author(s)
  Yamasaki-Ishizaki Y, others, Matsumoto N, others.
- Journal Title
  
  Mol Cell Biol 27
  
  Pages: 732-742
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] RET oncogene amplification in thyroid cancer.correlations with cradiation-associated and high-gradc malignancy2007
- Author(s)
  Nakashima M, others, Matsumoto, N, others.
- Journal Title
  
  Hum Pathol 38
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.2007
- Author(s)
  Togashi Y, others, Matsumoto N, others
- Journal Title
  
  Internal Medicine 46
  
  Pages: 1995-2000
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] FBN2,FBNI,TGFBRI,and TGFBR2 analyses in congenital contractural arachnod actyly.2007
- Author(s)
  Nishimura A, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19040023
[Journal Article] Recent advance in genetics of Marfan syndrome and Marfan-associated disorders.2007
- Author(s)
  Mizuguch T, Matsumoto N
- Journal Title
  
  J Hum Genet 52
  
  Pages: 1-12
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Role of DNA methylation and histone H3 Lysine 27 methylation in tissue-specific imprinting of mouse Grb10.2007
- Author(s)
  Yamasaki-Ishizaki Y, others, Matsumoto N, others.
- Journal Title
  
  Mol Cell Biol 27
  
  Pages: 732-742
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] FBN2,FBN1,TGFBR1,and TGFBR2 analyses in congenital contractural arachnod actyly2007
- Author(s)
  Nishimura A, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 694-698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Less frequent NSD1-intragenic deletions in Japaese Sotos syndrome:Analysis of 30 patients by NSD1-exon array CGH,quantitative fluoresent duplex PCR,and fluoescence in situ hybridization2007
- Author(s)
  Sosonkina N others, Matsumoto N
- Journal Title
  
  Acta Medica Nagasakiensia 52
  
  Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Receent advance in genetics of Marfan syndrome and Marfa-associated disorders2007
- Author(s)
  Mizuguch T, Matsumoto N
- Journal Title
  
  J Hum Genet 52
  
  Pages: 1-12
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.2007
- Author(s)
  Togashi Y, others, Matsumoto N, others
- Journal Title
  
  Internal Medicine 46
  
  Pages: 1995-2000
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Congenital Arhinia: Molecular-genetic Analysis of Five Patients.2007
- Author(s)
  Sato D, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 546-552
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Angelmasyndromecausedbyanidenticalfamilial1487-kbdeletion2007
- Author(s)
  Sato K, Matsumoto N.
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 98-101
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Angelman syndrome caused by an identical familial 1487-kb deletion.2007
- Author(s)
  Sato K, others, Matsumoto N.
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 98-101
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Role of DNA methylation and histone H3 Lysine 27 methylation in tissue-specific imprinting of mouse Grb102007
- Author(s)
  Yamaski-Ishizaki Y, others, Matsumoto N, others.
- Journal Title
  
  Mol Cell Biol 27
  
  Pages: 732-742
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.2006
- Author(s)
  Visser R, Matsumoto N others
- Journal Title
  
  J Hum Genet 51(1)
  
  Pages: 15-20
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Congenital neuroblastoma in a patient with partial trisomy of 2p.2006
- Author(s)
  Dowa Y, Harada N, Matsumoto N, Kurosawa K others
- Journal Title
  
  J Pediatr Hematol Oncol 28(6)
  
  Pages: 379-382
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Analysis of the NSDI promoter region in patients with a Sotos syndrome phenotype.2006
- Author(s)
  Visser R, others, Matsumoto N
- Journal Title
  
  J Hum Genet 51(1)
  
  Pages: 15-20
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.2006
- Author(s)
  Miura S, others, Harada N, others, Matsumoto N, others.
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 412-417
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome.2006
- Author(s)
  Miyake N, Shimokawa O, Harada N, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(3)
  
  Pages: 291-293
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Analysis of the NSDl promoter region in patients with a Sotos syndrome phenotype.2006
- Author(s)
  Visser R, others, Matsumoto N
- Journal Title
  
  J Hum Genet 51(1)
  
  Pages: 15-20
- Data Source
  KAKENHI-PROJECT-18659094
[Journal Article] Origin and mechanisms of formation of fetus-in-fetu : Two cases with genotype and methylation analyses.2006
- Author(s)
  Miura S, others, Harada N, Ishizaki-Yamasaki Y, Matsumoto M, others.
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1737-1743
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome.2006
- Author(s)
  Niihori T, others, Matsumoto N, others.
- Journal Title
  
  Nat Genet 38(3)
  
  Pages: 294-296
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan related phenotypes.2006
- Author(s)
  Sakai H, Harada N, Mizuguchi T, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1719-1725
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] The prevalent -16C>T change at the 5' UTR of the puratropin-1 gene in autosomal dominant cerebellar ataxia in Nagano.2006
- Author(s)
  Ohata T, others, Matsumoto N
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 461-466
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Nevo syndrome : a variant of Sotos syndrome?2006
- Author(s)
  Kanemoto N, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(1)
  
  Pages: 70-73
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Congenital neuroblastoma in a patient with partial trisomy of 2p.2006
- Author(s)
  Dowa Y, others, Harada N, Matsumoto N, Kurosawa K
- Journal Title
  
  J Pediatr Hematol Oncol 28(6)
  
  Pages: 379-382
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006
- Author(s)
  Miyake N, Shimokawa O, Harada N, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(3)
  
  Pages: 205-211
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).2006
- Author(s)
  Hiraki Y, others, Harada N, Mizuguchi T, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1773-1777
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Trigonocephaly in a boy with patemally inherited deletion 22q11.2 syndrome.2006
- Author(s)
  Yamamoto T, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(12)
  
  Pages: 1302-1304
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Polymorphic alleles of the human MELL gene are associated with human azoospermia by meiotic arrest.2006
- Author(s)
  Sato H, Matsumoto N others
- Journal Title
  
  J Hum Genet 51(6)
  
  Pages: 533-540
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies.2006
- Author(s)
  Yamomoto T, others, Harada N, Matsumoto N, Kurosawa K
- Journal Title
  
  Am J Med Genet 140A(1)
  
  Pages: 88-91
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Trigonocephaly in a boy with paternally inherited deletion 22g11.2 syndrome.2006
- Author(s)
  Yamamoto T, others, Matsumoto N, others
- Journal Title
  
  Am J Med Genet 140A(12)
  
  Pages: 1302-1304
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] The prevalent-16C>T change at the 5' UTR of the puratropin-1 gene in autosomal dominant cerebellar ataxia in Nagano.2006
- Author(s)
  Ohata T, Matsumoto N others
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 461-466
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome.2006
- Author(s)
  Miyake N, Shimokawa O, Harada N, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(3)
  
  Pages: 291-293
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Origin and mechanisms of formation of fetus-in-fetu : Two cases with genotype and methylation analyses.2006
- Author(s)
  Miura S, Harada N, Ishizaki-Yamasaki Y, Matsumoto M others
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1737-1743
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Narrowing Candidate Region for Monosomy 9p Syndrome to a 4.7-Mb Segment at 9p22.2-p23.2006
- Author(s)
  Kawara H, Yamamoto T, Harada N, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(4)
  
  Pages: 373-377
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chrmosome abnormalities using cell-free fetal DNA in amniotic fluid.2006
- Author(s)
  Miura S, Harada N, Matsumoto N others
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 412-417
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Nevo syndrome : a variant of Sotos syndrome?2006
- Author(s)
  Kanemoto N, others, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(1)
  
  Pages: 70-73
- Data Source
  KAKENHI-PROJECT-18659094
[Journal Article] Narrowing Candidate Region for Monosomy 9p Syndrome to a 4.7-Mb Segment at 9p22.2-p23.2006
- Author(s)
  Kawara H, Yamamoto T, Harada N, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(4)
  
  Pages: 373-377
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan related phenotypes.2006
- Author(s)
  Sakai H, others, Harada N, Mizuguchi T, Matsumoto N
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1719-1725
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies.2006
- Author(s)
  Yamomoto T, Harada N, Matsumoto N, Kurosawa K others
- Journal Title
  
  Am J Med Genet 140A(1)
  
  Pages: 88-91
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Array Comparative Genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.2006
- Author(s)
  Shimokawa O, Harada N, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A
  
  Pages: 1931-1935
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Nevo syndrome : a variant of Sotos syndrome?2006
- Author(s)
  Kanemoto N, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(1)
  
  Pages: 70-73
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Array Comparative Genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.2006
- Author(s)
  Shimokawa O, Harada N, others, Matsumoto N.
- Journal Title
  
  Am J Med Genet 140A
  
  Pages: 1931-1935
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome.2006
- Author(s)
  Niihori T, Matsumoto N others
- Journal Title
  
  Nat Genet 38(3)
  
  Pages: 294-296
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.2006
- Author(s)
  Sato H, others, Matsumoto N, others.
- Journal Title
  
  J Hum Genet 51(6)
  
  Pages: 533-540
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] Complete Hydatidiform Mole and Normal Live Birth after Intracytoplasmic Sperm Injection.2006
- Author(s)
  Hamanoue H, others, Harada H, others, Matsumoto N
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 477-479
- Data Source
  KAKENHI-PROJECT-18023031
[Journal Article] BAC array CGH raveals genomic aberrations in idiopathic mental retardation.2006
- Author(s)
  Miyake N, Shimokawa O, Harada N, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(3)
  
  Pages: 205-211
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Complete Hydatidiform Mole and Normal Live Birth after Intracytoplasmic Sperm Injection.2006
- Author(s)
  Hamanoue H, Harada H, Matsumoto N others
- Journal Title
  
  J Hum Genet 51(5)
  
  Pages: 477-479
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation T(Y;1).2006
- Author(s)
  Hiraki Y, Harada N, Mizuguchi T, Matsumoto N others
- Journal Title
  
  Am J Med Genet 140A(16)
  
  Pages: 1773-1777
- Data Source
  KAKENHI-PROJECT-18390108
[Journal Article] 9q34.3 deletion syndrome in three unrelated children.2004
- Author(s)
  Iwakoshi M, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet 126A・3
  
  Pages: 278-283
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] Subtelomere-specific Microarray-based Comparative Genomic Hybridization : A Rapid Detection System for Cryptic Rearrangements in Idiopathic Mental Retardation.2004
- Author(s)
  Harada N, et al., Matsumoto N
- Journal Title
  
  J Med Genet 41・2
  
  Pages: 130-136
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] Molecular Dissection of Inverted Duplication 8p23.2004
- Author(s)
  Shimokawa O, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet 128A・2
  
  Pages: 133-137
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] Phenotype genotype correlation in two patients with 12q proximal deletion.2004
- Author(s)
  Miyake N, et al., Matsumoto N
- Journal Title
  
  J Hum Genet 49・5
  
  Pages: 282-284
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] Unmasking 15q12 Deletion Using Microarray-based Comparative Genomic Hybridization in a Mentally Retarded Boy With r(Y).2004
- Author(s)
  Kurosawa K, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet 130A・3
  
  Pages: 322-324
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS.2004
- Author(s)
  Miyake N, et al., Matsumoto N
- Journal Title
  
  Am J Med Genet 128A・2
  
  Pages: 170-172
- Data Source
  KAKENHI-PROJECT-16390101
[Journal Article] SMOC1 is essential for ocular and limb development in humans and mice
- Author(s)
  Okada I, Hamanoue H, (denotes equal contribution) Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H.
- Journal Title
  
  Am J Hum
- Data Source
  KAKENHI-PROJECT-21249024
[Journal Article] Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome : Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients.
- Author(s)
  Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics A (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Patent] 神経核内封入体病患者の検出方法2020
- Inventor(s)
  曽根淳、松本直通、三橋里美、藤田京志、祖父江元
- Industrial Property Rights Holder
  曽根淳、松本直通、三橋里美、藤田京志、祖父江元
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2020-001133
- Filing Date
  2020
- Data Source
  KAKENHI-PROJECT-19H03577
[Patent] コフィン－シリス症候群の検出方法2014
- Inventor(s)
  松本直通・三宅紀子・鶴崎美徳
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-07-14
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] 孔脳症又は脳出血のリスクを予測する方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-05-09
- Overseas
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法2014
- Inventor(s)
  松本直通/三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-02-07
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] コフィン－シリス症候群の検出方法2014
- Inventor(s)
  松本直通・三宅紀子・鶴崎美徳
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-07-14
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-06-09
- Overseas
- Data Source
  KAKENHI-ORGANIZER-24118001
[Patent] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-06-09
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] 孔脳症又は脳出血のリスクを予測する方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-05-09
- Overseas
- Data Source
  KAKENHI-ORGANIZER-24118001
[Patent] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法2014
- Inventor(s)
  松本直通/三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-02-07
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-06-09
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] 孔脳症又は脳出血のリスクを予測する方法2014
- Inventor(s)
  松本直通・才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-05-09
- Overseas
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] コフィン－シリス症候群の検出方法2014
- Inventor(s)
  松本直通・三宅紀子・鶴崎美徳
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014-07-14
- Data Source
  KAKENHI-ORGANIZER-24118001
[Patent] Coffin-Siris症候群の新規遺伝子診断法2013
- Inventor(s)
  鶴崎美徳、松本直通
- Industrial Property Rights Holder
  鶴崎美徳、松本直通
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-252720
- Filing Date
  2013-12-06
- Data Source
  KAKENHI-ORGANIZER-24118001
[Patent] ケトン血症を伴うリー脳症患者または保因者の検出法2013
- Inventor(s)
  松本直通/三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-157339
- Filing Date
  2013-07-31
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] Coffin-Siris症候群の新規遺伝子診断法2013
- Inventor(s)
  鶴崎美徳/松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-252720
- Filing Date
  2013-12-06
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] ケトン血症を伴うリー脳症患者または保因者の検出法2013
- Inventor(s)
  松本直通/三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-157339
- Filing Date
  2013-07-31
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法2013
- Inventor(s)
  才津浩智/松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-123660
- Filing Date
  2013-06-12
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法2013
- Inventor(s)
  才津浩智/松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-123660
- Filing Date
  2013-06-12
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] Coffin-Siris症候群の新規遺伝子診断法2013
- Inventor(s)
  鶴崎美徳/松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-252720
- Filing Date
  2013-12-06
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] ミトコンドリア複合体III欠乏症の確定診断法2012
- Inventor(s)
  松本直通・三宅紀子
- Industrial Property Rights Holder
  松本直通・三宅紀子
- Industrial Property Rights Type
  特許
- Filing Date
  2012-08-16
- Data Source
  KAKENHI-PROJECT-24249019
[Patent] ミトコンドリア複合体III欠乏症の確定診断法2012
- Inventor(s)
  松本直通・三宅紀子
- Industrial Property Rights Holder
  松本直通・三宅紀子
- Industrial Property Rights Type
  特許
- Filing Date
  2012-08-16
- Data Source
  KAKENHI-PLANNED-24118007
[Patent] コフィンーシリス症候群の検出方法2012
- Inventor(s)
  松本直通・鶴崎美徳・三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2012-000136
- Filing Date
  2012-01-04
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] コフィン-シリス症候群の検出方法2012
- Inventor(s)
  松本直通・鶴崎美徳・三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2012-000136
- Filing Date
  2012-01-04
- Data Source
  KAKENHI-PUBLICLY-23110513
[Patent] 孔脳症および周産期脳出血の検出方法2011
- Inventor(s)
  才津浩智・松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-247457
- Filing Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] マルファン症候群診断用プローブ、及び当該プローブを用いたスクリーニング法2011
- Inventor(s)
  新川詔夫/松本直通/キャサリン/ボイリュー/グエナー/レビラウド/グラーム/ジョンドウ
- Industrial Property Rights Holder
  長崎大学/フランスINSERM
- Acquisition Date
  2011-03-25
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] び慢性大脳白質形成不全症の検出方法2011
- Inventor(s)
  才津浩智/松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Filing Date
  2011-10-14
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] び慢性大脳白質形成不全症の検出方法2011
- Inventor(s)
  才津浩智・松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-226488
- Filing Date
  2011-10-14
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] び慢性大脳白質形成不全症の検出方法2011
- Inventor(s)
  才津浩智・松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-226488
- Filing Date
  2011-10-14
- Data Source
  KAKENHI-PUBLICLY-23110513
[Patent] 常染色体劣性遺伝性脊髄小脳変性症の検出方法2011
- Inventor(s)
  松本直通・土井宏
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-136277
- Filing Date
  2011-06-20
- Data Source
  KAKENHI-PUBLICLY-23110513
[Patent] 孔脳症および周産期脳出血の検出方法2011
- Inventor(s)
  才津浩智・松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-247457
- Filing Date
  2011-11-11
- Data Source
  KAKENHI-PUBLICLY-23110513
[Patent] RNF213遺伝子多型による重症型もやもや病の予測方法2011
- Inventor(s)
  松本直通・宮武聡子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-175013
- Filing Date
  2011-08-10
- Data Source
  KAKENHI-PUBLICLY-23110513
[Patent] 常染色体劣性遺伝性脊髄小脳変性症の検出方法2011
- Inventor(s)
  松本直通・土井宏
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-136277
- Filing Date
  2011-06-20
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] RNF213遺伝子多型による重症型もやもや病の予測方法2011
- Inventor(s)
  松本直通・宮武聡子
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-175013
- Filing Date
  2011-08-10
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] Waardenburg無眼球症候群の検出方法2010
- Inventor(s)
  松本直通
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2010-106974
- Filing Date
  2010-05-07
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] 欧州特許1767653号2010
- Inventor(s)
  新川詔夫/松本直通/キャサリン/ボイリュー/グエナー/レビラウド/グラーム/ジョンドウ
- Industrial Property Rights Holder
  長崎大学/フランスINSERM
- Acquisition Date
  2010-08-25
- Overseas
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] エーラス・ダンロス症候群患者又は保因者の検出方法2009
- Inventor(s)
  松本直通, 三宅紀子
- Industrial Property Rights Holder
  横浜市立大学
- Filing Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21790341
[Patent] 大脳白質異常を伴う点頭てんかんの検出方法2009
- Inventor(s)
  松本直通/才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2009-146055
- Filing Date
  2009-06-19
- Data Source
  KAKENHI-PROJECT-20023024
[Patent] エーラス・ダンロス症候群患者又は保因者の検出方法2009
- Inventor(s)
  松本直通、三宅紀子
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Number
  2009-219304
- Filing Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21790341
[Patent] 大脳白質異常を伴う点頭てんかんの検出方法2009
- Inventor(s)
  松本直通/才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2009-146055
- Acquisition Date
  2009-06-19
- Data Source
  KAKENHI-PROJECT-21249024
[Patent] マルファン症候群診断用プローブ、及び当該プローブを用いたスクリーニング法2004
- Inventor(s)
  松本直通, 新川詔夫他2名
- Industrial Property Rights Holder
  長崎大学
- Industrial Property Number
  2004-158099
- Filing Date
  2004-05-27
- Data Source
  KAKENHI-PROJECT-16390101
[Patent] マルファン症候群診断用ブローブ、及び当該プローブを用いたスクリーニング法2004
- Inventor(s)
  松本直道, 新川詔夫他2名
- Industrial Property Rights Holder
  長崎大学
- Industrial Property Number
  2004-158099
- Filing Date
  2004
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16390101
[Presentation] オミックス・IRUD解析拠点における希少疾患のゲノム解析2020
- Author(s)
  松本直通
- Organizer
  第15回広島臨床遺伝セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 希少難病の高精度診断と病態解明のためのオミックス拠点の構築2020
- Author(s)
  松本直通
- Organizer
  2019年度合同成果報告会（難治性疾患実用化研究事業）
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 希少難治疾患の原因遺解明：ロングリードシーケンスの活用法2020
- Author(s)
  松本直通
- Organizer
  田辺三菱製薬株式会社・全ゲノム解析講演会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Rare Variants in Human Diseases: Single-gene disorders2020
- Author(s)
  松本直通
- Organizer
  京都大学・マギル大学ゲノム医学国際連携専攻講義
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 希少難治疾患の遺伝子・ゲノム解析拠点研究2020
- Author(s)
  松本直通
- Organizer
  横浜市立大学企画記者懇談会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Sequel sequencing applied to disease-genome analysis2019
- Author(s)
  Naomichi Matsumoto
- Organizer
  PacBio user group meeting(Beijing, China)
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Sequel を用いた疾患ゲノム解析2019
- Author(s)
  松本直通
- Organizer
  PacBioユーザーグループミーティング
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Long read sequencing for disease-genome analysis: our experiences2019
- Author(s)
  Naomichi Matsumoto
- Organizer
  PacBio ASHG 2019 Workshop
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] EE/DEE関連遺伝子研究の進歩2019
- Author(s)
  松本直通
- Organizer
  第53回日本てんかん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] RNA sequencing solved the most common but unrecognized pathogenic variant in Japanese nemalin myopathy2019
- Author(s)
  Naomichi Matsumoto
- Organizer
  Forum of Neuroscience 2019
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 人類遺伝学2019
- Author(s)
  松本直通
- Organizer
  東京大学医学部講義
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 進行性ミオクローヌスてんかんの原因となる12-kb欠失：長鎖シーケンスの活用法2019
- Author(s)
  松本直通
- Organizer
  精神・神経疾患研究開発費30-6「運動症状を主症状とする小児期発症稀少難治性神経疾患研究」班会議
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Long Read Sequencing技術の成果2019
- Author(s)
  松本直通
- Organizer
  IRUD workshop
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] RNA sequencing solved the most common but unrecognized pathogenic variant in Japanese nemalin myopathy”(Poster)2019
- Author(s)
  Naomichi Matsumoto, Kohei Hamanaka and Satoko Miyatake
- Organizer
  ESHG 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] ロングリードシーケンスによる疾患ゲノム解析2019
- Author(s)
  松本直通
- Organizer
  第64回日本人類遺伝学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Long read sequencing for “difficult regions”2019
- Author(s)
  Naomichi Matsumoto
- Organizer
  CNV research meeting
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Whole exome sequencingで解決できない症例へのアプローチ2019
- Author(s)
  松本直通
- Organizer
  日本筋学会第5回学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 人類遺伝学2019
- Author(s)
  松本直通
- Organizer
  長崎大学医学部講義
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 周産期異常とゲノム解析2019
- Author(s)
  松本直通
- Organizer
  九州大学医学部講義（受胎・成長・発達）
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Long read sequencing による疾患ゲノム解析2019
- Author(s)
  松本直通
- Organizer
  第61回164委員会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] PPP3CAの機能獲得型変異と機能喪失型変異は異なる疾患を惹起する2019
- Author(s)
  松本直通
- Organizer
  IRUD workshop
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 難病領域の単一遺伝子性疾患に対する全ゲノム解析2019
- Author(s)
  松本直通
- Organizer
  難病に関するゲノム医療の推進に関する検討会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 希少難病の原因解明の現状とその先へ2019
- Author(s)
  松本直通
- Organizer
  .IRUD講演会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 高感度な体細胞モザイク変異同定への戦略2018
- Author(s)
  松本直通
- Organizer
  アジレントゲノミクスフォーラム講師
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] ナノ液体クロマトグラフィータンデム質量分析法を用いたエーラス・ダンロス症候群の診断法の開発2018
- Author(s)
  山田和夫、渡辺淳、古庄知己、水本秀二、山田修平、竹下治男、松本健一
- Organizer
  第50回日本結合組織学会学術大会、福岡、6/30
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] ヒト疾患ゲノム解析の到達点と問題点2018
- Author(s)
  松本直通
- Organizer
  第58回日本先天異常学会学術集会・特別講演
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 次世代シーケンサー解析の現状と問題点2018
- Author(s)
  松本直通
- Organizer
  第121回日本小児科学会学術集会・総合シンポジウム3
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] ヘパラン硫酸の生合成を担うEXTL3の変異は免疫不全を伴う脊椎骨端骨幹端異形成症を引き起こす2018
- Author(s)
  水本秀二, Long Guo, Nursel H Elcioglu, Zheng Wang, Bilge Noyan, Hatice M Albayrak, 松本直通, 三宅紀子, 西村玄, 山田修平, 池川志郎
- Organizer
  糖鎖科学中部拠点　第15回若手の力フォーラム、静岡、9/6
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Rare variants in human diseases2018
- Author(s)
  Naomichi Matsumoto
- Organizer
  Lecture for Kyoto-McGill International Collaborative Program Students
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 神経疾患とNGS解析2018
- Author(s)
  松本直通
- Organizer
  第3回神経代謝病研究会・教育講演
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Pathophysiological investigation of musculocontractural EDS caused by mutations in CHST14 using knock-out mice2018
- Author(s)
  Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin’ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
- Organizer
  The International Symposium on the Ehlers-Danlos Syndromes (EDS2018),Ghent, Belgium, 9/28
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] etection of copy number variations in epilepsy using exome data2018
- Author(s)
  Naomichi Matsumoto and Naomi Tsuchida.
- Organizer
  ESHG 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 遺伝性疾患解明に取り組んだ四半世紀2018
- Author(s)
  松本直通
- Organizer
  第63回日本人類遺伝学会大会・会長講演
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「タンパク質翻訳後修飾拠点におけるゲノム解析研究」2018
- Author(s)
  松本直通
- Organizer
  第８回国際公開シンポジウム
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Structural studies on heparan sulfate produced by the lymphoblastoid cell lines prepared from a patient with a mutation in EXTL3 and embryonic cells from Extl3-deficient mice2018
- Author(s)
  Shuhei Yamada, Shuji Mizumoto, Hirofumi Ohashi, Etsuko Sakasai, Nursel H Elcioglu, Noriko Miyake, Naomichi Matsumoto, Daisuke Ibi, Akira Sugawara, and Shiro Ikegawa
- Organizer
  Gordon Research Conference on Proteoglycans 2018, Andover, Poster, USA, 7/8-13
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] ヘパラン硫酸生合成酵素であるEXTL3の変異は免疫異常を伴う新たなタイプの脊椎骨端骨幹端異形成症を引き起こす2018
- Author(s)
  Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura1, Shiro Ikegawa
- Organizer
  日本生化学会中部支部第82回例会・シンポジウム、岐阜、5/19
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 次世代シーケンサーによる遺伝性疾患解析の現状と課題2018
- Author(s)
  松本直通
- Organizer
  第24回日本家族性腫瘍学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] A novel type of spondylo-epi-metaphyseal dysplasia with immuno-deficiency caused by mutation in EXTL3 encoding a glycosyltransferase responsible for biosynthesis of heparan sulfate2018
- Author(s)
  Shuji Mizumoto, Long Guo, Nursel H Elcioglu, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shuhei Yamada, and Shiro Ikegawa
- Organizer
  The 11th International Symposium on Glycosyltransferases, Qingdao, China, 6/19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] “Rare genomic variants in human diseases”2018
- Author(s)
  Naomichi Matsumoto
- Organizer
  14.International Symposium on Approaching from model organisms to rare and undiagnosed diseases
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 免疫異常を伴う脊椎骨端骨幹端異形成症はヘパラン硫酸の生合成を担うEXTL3の変異により引き起こされる2018
- Author(s)
  水本秀二, Long Guo, Nursel H Elcioglu, Zheng Wang, Bilge Noyan, Hatice M Albayrak,松本直通, 三宅紀子, 西村玄, 山田修平, 池川志郎
- Organizer
  第37回日本糖質学会年会、仙台、8/30
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 遺伝性疾患のNGS解析の現状,そしてその先へ2018
- Author(s)
  松本直通
- Organizer
  第13回九州遺伝子診断研究会・特別講演
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Genomics in epilepsy moving forward to the next frontier2018
- Author(s)
  Naomichi Matsumoto,
- Organizer
  International Child Neurology Conference 2018
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「周産期異常とゲノム解析」2017
- Author(s)
  松本直通
- Organizer
  九州大学医学部講義（受胎・成長・発達）
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Delineation of musculocontractural Ehles-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): report of additional patients and comprehensive review of reported cases2017
- Author(s)
  〇A. Unzaki, CK. Lautrup, K. Wee Teik, S. Mizumoto, H. Hock Sin, IK. Nielsen, S. Markholt, S. Yamda, N. Matsumoto, N. Miyake, and T. Kosho
- Organizer
  American Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] “Rare variants in human diseases”2017
- Author(s)
  Naomichi Matsumoto
- Organizer
  IX International Congress Cornelia de Lange Syndrome,
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] “Rare variants in human diseases”2017
- Author(s)
  Naomichi Matsumoto
- Organizer
  Lecture for department of Medical Genetics, University of Sao Paulo
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Development of diagnostic method of Ehlers-Danlos syndrome using nano-LC/MS/MS2017
- Author(s)
  ◯山田和夫、渡辺淳、古庄知己、水本秀二、山田修平、竹下治男、松本健一
- Organizer
  2017年度生命科学系学会合同年次大会（ConBio2017）、第40回日本分子生物学会年会、第90回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] “How to Detect Ultra-Low-Level Somatic Mutations.”2017
- Author(s)
  Naomichi Matsumoto
- Organizer
  AES Annual Meeting 2017, Investigator Workshop 2: Somatic mutation: the ‘hidden genetics’ of brain malformations.
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「次世代シーケンサーがもたらした希少”遺伝性”疾患解析の現状と展望」2017
- Author(s)
  松本直通
- Organizer
  協和発酵キリン㈱富士リサーチパークセミナー
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Exome analysis of autosomal recessive or sporadic cases of cerebellar ataxia and spastic paraplegia.2017
- Author(s)
  Doi H., Koyano S., Kunii M., Miyatake S., Nakajima S., Hashiguchi S., Ikeda S., Kubota S., Hirama N., Ogawa Y., Takahashi K., Tada M., Tanaka K., Takeuchi H., Matsumoto N., Tanaka F.
- Organizer
  XXIII World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09344
[Presentation] 「体細胞モザイク変異とヒト疾患」2017
- Author(s)
  松本直通
- Organizer
  日本環境変異原学会（JEMS）第46回大会シンポジウム
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] “Biallelic mutations in the myopalladin gene, MYPN, are associated with childhood-onset, slowly progressive nemaline myopathy”2017
- Author(s)
  Naomichi Matsumoto and Satoko Miyatake
- Organizer
  ESHG 2017
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] デルマタン硫酸エピメラーゼ欠損によるmusculocontractural Ehlers-Danlos Syndromeの既報告3例と新規3例における臨床像の検討2017
- Author(s)
  〇運﨑愛、Charlotte Kvist Lautrup、Keng Wee Teik、水本秀二、Heng Hock Sin、Irene Kibaek Nielsen、Sara Markholt、山田修平、松本直通、三宅紀子、古庄知己
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] 「ヒト疾患とRare Variants」2017
- Author(s)
  松本直通
- Organizer
  第20回山梨神経先端セミナー
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] “Rare variants in Rare and Intractable diseases”2017
- Author(s)
  Naomichi Matsumoto
- Organizer
  9.International Symposium on Genomic Medicine-Genomics of Rare and Intractable Diseases
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「最新のNGS 研究の動向と新しい展開」2017
- Author(s)
  松本直通
- Organizer
  第22回日本ライソゾーム病研究会特別講演
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「次世代シーケンス研究で直面する様々な問題点に対する取り組み」2017
- Author(s)
  松本直通
- Organizer
  NGS現場の会・スポンサードセッション
- Invited
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] 「ロングリードシーケンサーSequelを用いた疾患ゲノム解析の試み」2017
- Author(s)
  松本直通
- Organizer
  第62回日本人類遺伝学会学術集会ランチョンセミナー
- Data Source
  KAKENHI-PROJECT-17H01539
[Presentation] Integrated neuroglycobiology for proteoglycans and chondroitin sulfate-binding proteins2017
- Author(s)
  ◯Shuji Mizumoto, Yusuke Yoshikawa, Shuhei Yamada, Kosei Takeuchi, Yoshiaki Nakayama, Akira Kurosaka, Keiichiro Matsushima, Nobuyuki Miyamoto, Wataru Takada, Hirofumi Kodera, Naomichi Matsumoto, Hirotomo Saitsu, Gunnar Dick, James W. Fawcett, Jessica C. F. Kwok, and Kazuyuki Sugahara
- Organizer
  平成28年度　新学術領域「神経糖鎖生物学」最終シンポジウム
- Place of Presentation
  JPタワー名古屋(名古屋)
- Year and Date
  2017-03-03
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Rare variants in human diseases2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  International Symposium on Genomic Medicine 2016
- Place of Presentation
  Samsung Medical Center, Seoul, Korea
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] The clinical and pathological features of autosomal-dominant SCA with CACNA1G mutation.2016
- Author(s)
  Doi H, Koyano S, Shiina M, Ogata K, Hirashima F, Inoue Y, Hashiguchi S, Kunii M, Kishida H, Yokota T, Mizusawa H, Mitsui J, Tsuji S, Matsumoto N, Ishikawa K and Tanaka F.
- Organizer
  第57回日本神経学会学術大会
- Place of Presentation
  神戸国際会議場（兵庫）
- Data Source
  KAKENHI-PROJECT-15K09344
[Presentation] ソトス症候群とベックウィズ・ビーデマン症候群でオーバーラップする表現型の原因探索2016
- Author(s)
  渡邊英孝、東元健、三宅紀子、前田寿幸、樋高秀憲、青木早織、八木ひとみ、西岡憲一、城圭一郎、松本直通、副島英伸
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田キャンパス
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26670169
[Presentation] Rare variants in human diseases2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  International Symposium on Genomic Medicine 2016
- Place of Presentation
  Samsung Medical Center（韓国ソウル市）
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] NSD1ハプロ不全はDNAメチル化インプリント異常と遺伝子発現異常を惹起する2016
- Author(s)
  渡邊英孝、東元健、三宅紀子、前田寿幸、樋高秀憲、青木早織、八木ひとみ、西岡憲一、城圭一郎、森田純代、堀居拓郎、木村美香、畑田出穂、松本直通、副島英伸
- Organizer
  第39回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜
- Year and Date
  2016-11-30
- Data Source
  KAKENHI-PROJECT-26670169
[Presentation] Somatic mutation in Sturge Weber syndrome2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 11th Asisan & Oceanian Epilepsy Congress(AOEC)
- Place of Presentation
  Hong Kong Convention & Exhibition Centre（香港）
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Mendelian Exome in Japan2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  LMCE2016, Symposium 13
- Place of Presentation
  The-K Hotel（韓国ソウル市）
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] デルマタン硫酸の生合成不全によるエーラス・ダンロス症候群の糖鎖生物学的研究2016
- Author(s)
  水本秀二, 古庄知己, 本田智子,中島正宏, Thomas Muller, 三宅紀子, 籏持淳, 松本直通, Andreas R Janecke, 池川志郎, 菅原一幸, ○山田修平
- Organizer
  第35回日本糖質学会年会
- Place of Presentation
  高知市文化プラザ（高知）
- Year and Date
  2016-09-03
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Rare variants in human diseases2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 2016 Annual Meeting of The Chinese Society of Medical Genetics (CSMG)
- Place of Presentation
  Hanghzou, China
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Single molecule imaging and quantitative analysis of nucleolar-localized protein dynamics2016
- Author(s)
  松本大輝, 伊藤由馬, 斉藤典子，徳永万喜洋, 十川久美子
- Organizer
  第54回日本生物物理学会年会
- Place of Presentation
  つくば国際会議場（茨城県つくば市）
- Year and Date
  2016-11-25
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Rare variants in human diseases2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 2016 Annual Meeting of the Chinese Society of Medical Genetics (CSMG)
- Place of Presentation
  中国杭州市
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Mendelian Exome in Japan2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  LMCE2016, Symposium 13
- Place of Presentation
  The-K Hotel, Seoul, Korea
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Somatic mutation in Sturge Weber syndrome2016
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 11th Asian & Oceanian Epilepsy Congress (AOEC)
- Place of Presentation
  Hong Kong Convention & Exhibition Centre, Hong Kong
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 全エクソーム解析データの様々な活用法2015
- Author(s)
  松本直通
- Organizer
  2015アジレントゲノミクスフォーラム・招聘講演
- Place of Presentation
  ヒューリックホール浅草橋（東京都台東区）
- Year and Date
  2015-06-16
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] “遺伝子解析におけるドロップレットディジタルPCRの活用”2015
- Author(s)
  松本直通
- Organizer
  第38回日本分子生物学会年会(第88回日本生化学会大会)BMB2015, ランチョンセミナー
- Place of Presentation
  神戸ポートピアホテル（兵庫県神戸市）
- Year and Date
  2015-12-01
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 「遺伝性疾患の次世代シーケンス解析」2015
- Author(s)
  松本直通
- Organizer
  産総研Computational Biology Research Center (CBRC)セミナー
- Place of Presentation
  産総研・臨海副都心センター別館（東京都江東区）
- Year and Date
  2015-04-23
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] “Rare variants in human diseases” (invited)2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  University of Split Lecture
- Place of Presentation
  University of Split, Split, Croatia.
- Year and Date
  2015-11-09
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ヒト疾患とrare variants2015
- Author(s)
  松本直通
- Organizer
  第23回食細胞機能異常症研究会
- Place of Presentation
  東京慈恵医科大学（東京都港区）
- Year and Date
  2015-12-12
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2015
- Author(s)
  Naomichi Matsumoto, Eriko Koshimizu, Satoko Miyatake
- Organizer
  European Human Genetics Conference 2015
- Place of Presentation
  グラスゴー（イギリス）
- Year and Date
  2015-06-06
- Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] “Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy”(poster),2015
- Author(s)
  Naomichi Matsumoto, Eriko Koshimizu, Satoko Miyatake,
- Organizer
  European Human Genetics Conference 2015
- Place of Presentation
  Glasgow, Scotland, United Kingdom,
- Year and Date
  2015-06-09
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] “Next Generation Sequencing Dissecting Human “Genetic” Diseases” (invited)2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  The VI Croatian Congress of Human Genetics
- Place of Presentation
  Hotel President Split, Split, Croatia.
- Year and Date
  2015-11-06
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 「遺伝性疾患における話題提供」2015
- Author(s)
  松本直通
- Organizer
  第22回日本遺伝子診療学会大会・プレシジョン医療と診断情報の質保証（シンポジウム3）
- Place of Presentation
  かながわ労働プラザ（神奈川県横浜市）
- Year and Date
  2015-07-19
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 「最先端テクノロジーによる疾患ゲノム解析」2015
- Author(s)
  松本直通
- Organizer
  第1回日本産婦人科遺伝診療学会学術講演会・教育講演
- Place of Presentation
  長崎ブリックホール（長崎県長崎市）
- Year and Date
  2015-12-18
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Rare variants in human diseases2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  University of Split Lecture
- Place of Presentation
  スプリット（クロアチア）
- Year and Date
  2015-11-09
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 「全エクソーム解析データの様々な活用法」2015
- Author(s)
  松本直通
- Organizer
  2015アジレントゲノミクスフォーラム・招聘講演
- Place of Presentation
  ヒューリックホール浅草橋（東京都台東区）
- Year and Date
  2015-06-16
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 遺伝性疾患における話題提供2015
- Author(s)
  松本直通
- Organizer
  第22回日本遺伝子診療学会大会・プレシジョン医療と診断情報の質保証
- Place of Presentation
  かながわ労働プラザ（神奈川県横浜市）
- Year and Date
  2015-07-19
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 「ヒト疾患とrare variants」2015
- Author(s)
  松本直通
- Organizer
  第33回内分泌代謝学サマーセミナー・続・内分泌至上主義・シンポジスト（招聘）
- Place of Presentation
  柳川藩主立花邸（福岡県柳川市）
- Year and Date
  2015-07-09
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Next Generation Sequencing Dissecting Human “Genetic” Diseases2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  The VI Croatian Congress of Human Genetics
- Place of Presentation
  スプリット（クロアチア）
- Year and Date
  2015-11-06
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 遺伝子解析におけるドロップレットディジタルPCRの活用2015
- Author(s)
  松本直通
- Organizer
  第38回日本分子生物学会年会(第88回日本生化学会大会)BMB2015, ランチョンセミナー
- Place of Presentation
  神戸ポートピアホテル（兵庫県神戸市）
- Year and Date
  2015-12-01
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  Biochemistry and Molecular Biology (BMB) 2015
- Place of Presentation
  神戸ポートピアホテル（兵庫県神戸市）
- Year and Date
  2015-12-01
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 「低頻度体細胞モザイク変異が惹起するヒト疾患」（シンポジスト）2015
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第60回大会・シンポジウム９「ヒト疾患に関わる体細胞モザイク変異とその検出法」
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-16
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ヒト疾患とrare variants2015
- Author(s)
  松本直通
- Organizer
  第33回内分泌代謝学サマーセミナー・続・内分泌至上主義・シンポジスト
- Place of Presentation
  柳川藩主立花邸（福岡県柳川市）
- Year and Date
  2015-07-09
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Late-onset spastic ataxia phenotype related to a novel homozygous DDHD2 mutation.2015
- Author(s)
  土井宏，吉田邦広，牛山雅夫，谷佳津子，松本直通，田中章景
- Organizer
  第56回日本神経学会学術大会
- Place of Presentation
  朱鷺メッセ（新潟）
- Year and Date
  2015-05-23
- Data Source
  KAKENHI-PROJECT-15K09344
[Presentation] 「ヒト疾患とrare variants」2015
- Author(s)
  松本直通
- Organizer
  第23回食細胞機能異常症研究会、特別講演
- Place of Presentation
  東京慈恵医科大学（東京都港区）
- Year and Date
  2015-12-12
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 低頻度体細胞モザイク変異が惹起するヒト疾患2015
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 最先端テクノロジーによる疾患ゲノム解析2015
- Author(s)
  松本直通
- Organizer
  第1回日本産婦人科遺伝診療学会学術講演会・教育講演
- Place of Presentation
  長崎ブリックホール（長崎県長崎市）
- Year and Date
  2015-12-18
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 遺伝性疾患の次世代シーケンス解析2015
- Author(s)
  松本直通
- Organizer
  産総研Computational Biology Research Center (CBRC)セミナー
- Place of Presentation
  産総研・臨海副都心センター別館（東京都江東区）
- Year and Date
  2015-04-23
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] “Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb”2015
- Author(s)
  Naomichi Matsumoto
- Organizer
  Biochemistry and Molecular Biology (BMB) 2015
- Place of Presentation
  Kobe portpia hotel, Kobe.　（兵庫県神戸市）
- Year and Date
  2015-12-01
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] “Congenital intellectual disability syndromes　arising from mutations of epigenetic regulators”in the symposium for epigenetic dysregulation and disease.2014
- Author(s)
  松本　直通
- Organizer
  The 37th annual meeting of the molecular biology society of Japan
- Place of Presentation
  Pacifico Yokohama（神奈川県）
- Year and Date
  2014-11-27
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] TUBB4A変異による先天性白質形成不全症2014
- Author(s)
  松本　直道
- Organizer
  NCNP（精神・神経疾患研究開発費（佐々木班）平成26年度報告会
- Place of Presentation
  ＮＣＮＰ（東京都小平市）
- Year and Date
  2014-11-30
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーを用いた染色体・ゲノム構造異常解析2014
- Author(s)
  松本　直通
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-21
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] “Congenital intellectual disability syndromes　arising from mutations of epigenetic regulators”in the symposium for epigenetic dysregulation and disease.2014
- Author(s)
  松本　直通
- Organizer
  The 37th annual meeting of the molecular biology society of Japan
- Place of Presentation
  Pacifico Yokohama（神奈川県）
- Year and Date
  2014-11-27
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 遺伝性疾患におけるエクソーム解析の有用性2014
- Author(s)
  松本　直道
- Organizer
  第382回医学研究の基礎を語り合う集い
- Place of Presentation
  東京慈恵医科大学（東京都港区）
- Year and Date
  2014-04-21
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Neurodegeneration with Brain Iron Accumulation (NBIA): 急速に広がる疾患概念2014
- Author(s)
  松本　直道
- Organizer
  第55回日本神経病理学会総会学術集会
- Place of Presentation
  学術総合センター（東京都千代田区）
- Year and Date
  2014-06-07
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 遺伝性疾患のゲノム解析---1000ドルゲノム時代を迎えて---2014
- Author(s)
  松本　直通
- Organizer
  がん研臨床試験・研究センター　第12回臨床研究セミナー
- Place of Presentation
  がん研究会（東京都）
- Year and Date
  2014-07-03
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 難病を解き明かすヒト全遺伝子・全ゲノム解析2014
- Author(s)
  松本　直通
- Organizer
  横浜市立大学先端医科学研究センター市民講座
- Place of Presentation
  ウィング横浜（神奈川県）
- Year and Date
  2014-08-07
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患におけるエクソーム解析の有用性2014
- Author(s)
  松本　直通
- Organizer
  第382回医学研究の基礎を語り合う集い
- Place of Presentation
  東京慈恵医科大学（東京都）
- Year and Date
  2014-04-21
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患のゲノム解析---1000ドルゲノム時代を迎えて---2014
- Author(s)
  松本　直通
- Organizer
  がん研臨床試験・研究センター　第12回臨床研究セミナー
- Place of Presentation
  がん研究会（東京都）
- Year and Date
  2014-07-03
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  藤田保健衛生大学遺伝子網羅的解析センター開所記念セミナー・特別講演
- Place of Presentation
  藤田保健衛生大学（愛知県）
- Year and Date
  2014-06-21
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Spondyloepimetaphyseal dysplasia and Ehlers-Danlos syndrome caused by mutations of glycosaminoglycan biosynthetic enzymes, GalT-II and DS-epimerase2014
- Author(s)
  Shuji Mizumoto, Masahiro Nakajima, Thomas Muller Noriko Miyake, Ryo Kogawa, Yoshie Komatsu, Naomichi Matsumoto, Andreas R Janecke, Shiro Ikegawa, Kazuyuki Sugahara
- Organizer
  Joint Meeting of the Society for Glycobiology and the Japanese Society of Carbohydrate Research
- Place of Presentation
  Hilton Hotel (Hawaii, USA)
- Year and Date
  2014-11-19
- Data Source
  KAKENHI-PROJECT-25860037
[Presentation] Coffin-Siris症候群の新規遺伝子探索2014
- Author(s)
  松本　直通
- Organizer
  NCNP（精神・神経疾患研究開発費（後藤班）平成26年度報告会
- Place of Presentation
  NCNP（東京都）
- Year and Date
  2014-12-09
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 次世代シーケンサーによる遺伝子解析2014
- Author(s)
  松本　直通
- Organizer
  第56回日本先天代謝異常学会総会
- Place of Presentation
  江陽グランドホテル・仙台（宮城県）
- Year and Date
  2014-11-14
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] “Congenital intellectual disability syndromes　arising from mutations of epigenetic regulators”in the symposium for epigenetic dysregulation and disease2014
- Author(s)
  松本　直道
- Organizer
  The 37th annual meeting of the molecular biology society of Japan
- Place of Presentation
  パシフィコ横浜(神奈川県横浜市）
- Year and Date
  2014-11-27
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 個別化医療を進めるために2014
- Author(s)
  松本　直通
- Organizer
  日本遺伝子診療学会：遺伝子診断・検査技術推進フォーラム公開シンポジウム2014
- Place of Presentation
  コクヨホール（東京都）
- Year and Date
  2014-12-12
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーによる遺伝子解析2014
- Author(s)
  松本　直通
- Organizer
  第56回日本先天代謝異常学会総会
- Place of Presentation
  江陽グランドホテル・仙台（宮城県）
- Year and Date
  2014-11-14
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  九州大学産婦人科セミナー
- Place of Presentation
  第二博多偕成ビルアイクレオ（福岡県）
- Year and Date
  2014-05-21
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いた染色体・ゲノム構造異常解析2014
- Author(s)
  松本　直通
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-21
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Neurodegeneration with Brain Iron Accumulation (NBIA): 急速に広がる疾患概念2014
- Author(s)
  松本　直通
- Organizer
  第55回日本神経病理学会総会学術集会
- Place of Presentation
  学術総合センター（東京都）
- Year and Date
  2014-06-07
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  藤田保健衛生大学遺伝子網羅的解析センター開所記念セミナー・特別講演
- Place of Presentation
  藤田保健衛生大学（愛知県）
- Year and Date
  2014-06-21
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 人類遺伝学研究におけるデータベースの重要性2014
- Author(s)
  松本　直通
- Organizer
  日本人類遺伝学会第59回大会・松本直通・NPGランチョンセミナー
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-22
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 発達障害のゲノム解析2014
- Author(s)
  松本　直通
- Organizer
  第110回日本精神神経学会学術総会
- Place of Presentation
  パシフィコ横浜（神奈川県）
- Year and Date
  2014-06-27
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Next generation sequencing dissecting human genetic diseases2014
- Author(s)
  松本　直通
- Organizer
  The 9th Cherry Blossom Symposium.
- Place of Presentation
  横浜赤レンガ倉庫（神奈川県）
- Year and Date
  2014-04-19
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 発達障害のゲノム解析2014
- Author(s)
  松本　直通
- Organizer
  第110回日本精神神経学会学術総会
- Place of Presentation
  パシフィコ横浜（神奈川県）
- Year and Date
  2014-06-27
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 次世代シーケンサー解析のポテンシャルと小児医療2014
- Author(s)
  松本　直通
- Organizer
  第37回日本小児遺伝学会学術集会・シンポジウム
- Place of Presentation
  名古屋市立大学桜山キャンパス（愛知県）
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] TUBB4A変異による先天性白質形成不全症2014
- Author(s)
  松本　直通
- Organizer
  NCNP（精神・神経疾患研究開発費（佐々木班）平成26年度報告会
- Place of Presentation
  NCNP（東京都）
- Year and Date
  2014-11-30
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーの活用法2014
- Author(s)
  松本　直通
- Organizer
  第17回胎児遺伝子診断研究会
- Place of Presentation
  長崎ハウステンボス（長崎県）
- Year and Date
  2014-11-07
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直道
- Organizer
  九州大学産婦人科セミナー
- Place of Presentation
  第二博多偕成ビルアイクレオ（福岡県福岡市）
- Year and Date
  2014-05-21
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 人類遺伝学研究におけるデータベースの重要性2014
- Author(s)
  松本　直道
- Organizer
  日本人類遺伝学会第59回大会・松本直通・NPGランチョンセミナー
- Place of Presentation
  タワーホール船堀・東京（東京都江戸川区）
- Year and Date
  2014-11-22
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ゲノム解析と医療--1000ドルゲノム時代を迎えて--2014
- Author(s)
  松本　直通
- Organizer
  KOBE内分泌・代謝スキルアップセミナー特別講演
- Place of Presentation
  ホテルクラウンパレス神戸（兵庫県）
- Year and Date
  2014-08-23
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ゲノム解析と医療：1000ドルゲノムシーケンス時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  信州大学先鋭領域融合研究群バイオメディカル研究所設立記念講演会・記念講演会
- Place of Presentation
  信州大学医学部（長野県）
- Year and Date
  2014-05-25
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Neurodegeneration with Brain Iron Accumulation (NBIA): 急速に広がる疾患概念2014
- Author(s)
  松本　直通
- Organizer
  第55回日本神経病理学会総会学術集会
- Place of Presentation
  学術総合センター（東京都）
- Year and Date
  2014-06-07
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] ゲノム解析と医療--1000ドルゲノム時代を迎えて--2014
- Author(s)
  松本　直通
- Organizer
  KOBE内分泌・代謝スキルアップセミナー特別講演
- Place of Presentation
  ホテルクラウンパレス神戸（兵庫県）
- Year and Date
  2014-08-23
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 難病を解き明かすヒト全遺伝子・全ゲノム解析2014
- Author(s)
  松本　直道
- Organizer
  横浜市立大学先端医科学研究センター市民講座
- Place of Presentation
  ウイング横浜（神奈川県横浜市）
- Year and Date
  2014-08-07
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] TUBB4A変異による先天性白質形成不全症2014
- Author(s)
  松本　直通
- Organizer
  NCNP（精神・神経疾患研究開発費（佐々木班）平成26年度報告会
- Place of Presentation
  NCNP（東京都）
- Year and Date
  2014-11-30
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Next generation sequencing dissecting human genetic diseases2014
- Author(s)
  松本　直通
- Organizer
  The 9th Cherry Blossom Symposium.
- Place of Presentation
  横浜赤レンガ倉庫（神奈川県）
- Year and Date
  2014-04-19
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 次世代シーケンサーの活用法2014
- Author(s)
  松本　直道
- Organizer
  第17回胎児遺伝子診断研究会
- Place of Presentation
  長崎ハウステンボス（長崎県佐世保市）
- Year and Date
  2014-11-07
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 遺伝性疾患におけるエクソーム解析の有用性2014
- Author(s)
  松本　直通
- Organizer
  第382回医学研究の基礎を語り合う集い
- Place of Presentation
  東京慈恵医科大学（東京都）
- Year and Date
  2014-04-21
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ゲノム解析と医療：1000ドルゲノムシーケンス時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  信州大学先鋭領域融合研究群バイオメディカル研究所設立記念講演会・記念講演会
- Place of Presentation
  信州大学医学部（長野県）
- Year and Date
  2014-05-25
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサー解析のポテンシャルと小児医療2014
- Author(s)
  松本　直通
- Organizer
  第37回日本小児遺伝学会学術集会・シンポジウム
- Place of Presentation
  名古屋市立大学桜山キャンパス（愛知県）
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 遺伝性疾患のゲノム解析---1000ドルゲノム時代を迎えて---2014
- Author(s)
  松本　直道
- Organizer
  がん研臨床試験・研究センター　第12回臨床研究セミナー
- Place of Presentation
  がん研究会（東京都江東区）
- Year and Date
  2014-07-03
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ヒト発生・発達異常の分子探索と診断法の開発2014
- Author(s)
  松本　直通
- Organizer
  文部科学省イノベーションシステム整備事業先端融合領域イノベーション創出拠点形成プログラム「翻訳後修飾プロテオミクス医療研究拠点の形成」第5回公開シンポジウム
- Place of Presentation
  県民共済みなとみらいホール（神奈川県）
- Year and Date
  2014-08-19
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 個別化医療を進めるために2014
- Author(s)
  松本　直道
- Organizer
  日本遺伝子診療学会：遺伝子診断・検査技術推進フォーラム公開シンポジウム2014）
- Place of Presentation
  コクヨホール（東京都港区）
- Year and Date
  2014-12-12
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ヒト発生・発達異常の分子探索と診断法の開発2014
- Author(s)
  松本　直通
- Organizer
  文部科学省イノベーションシステム整備事業先端融合領域イノベーション創出拠点形成プログラム「翻訳後修飾プロテオミクス医療研究拠点の形成」第5回公開シンポジウム
- Place of Presentation
  県民共済みなとみらいホール（神奈川県）
- Year and Date
  2014-08-19
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 個別化医療を進めるために2014
- Author(s)
  松本　直通
- Organizer
  日本遺伝子診療学会：遺伝子診断・検査技術推進フォーラム公開シンポジウム2014
- Place of Presentation
  コクヨホール（東京都）
- Year and Date
  2014-12-12
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ヒト発生・発達異常の分子探索と診断法の開発2014
- Author(s)
  松本　直道
- Organizer
  文部科学省イノベーションシステム整備事業先端融合領域イノベーション創出拠点形成プログラム「翻訳後修飾プロテオミクス医療研究拠点の形成」第5回公開シンポジウム
- Place of Presentation
  県民共済みなとみらいホール（神奈川県横浜市）
- Year and Date
  2014-08-19
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサー解析のポテンシャルと小児医療2014
- Author(s)
  松本　直通
- Organizer
  第37回日本小児遺伝学会学術集会・シンポジウム
- Place of Presentation
  名古屋市立大学桜山キャンパス(愛知県名古屋市）
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Next generation sequencing dissecting human genetic diseases2014
- Author(s)
  松本　直道
- Organizer
  The 9th Cherry Blossom Symposium
- Place of Presentation
  横浜赤レンガ倉庫（神奈川県横浜市）
- Year and Date
  2014-04-19
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直通
- Organizer
  九州大学産婦人科セミナー
- Place of Presentation
  第二博多偕成ビルアイクレオ（福岡県）
- Year and Date
  2014-05-21
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 人類遺伝学研究におけるデータベースの重要性2014
- Author(s)
  松本　直通
- Organizer
  日本人類遺伝学会第59回大会　NPGランチョンセミナー
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-22
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Coffin-Siris症候群の新規遺伝子探索2014
- Author(s)
  松本　直道
- Organizer
  NCNP（精神・神経疾患研究開発費（後藤班）平成26年度報告会
- Place of Presentation
  ＮＣＮＰ（東京都小平市）
- Year and Date
  2014-12-09
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 発達障害のゲノム解析2014
- Author(s)
  松本　直道
- Organizer
  第110回日本精神神経学会学術総会
- Place of Presentation
  パシフィコ横浜（神奈川県横浜市）
- Year and Date
  2014-06-27
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーの活用法2014
- Author(s)
  松本　直通
- Organizer
  第17回胎児遺伝子診断研究会
- Place of Presentation
  長崎ハウステンボス（長崎県）
- Year and Date
  2014-11-07
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ゲノム解析と医療：1000ドルゲノムシーケンス時代を迎えて2014
- Author(s)
  松本　直道
- Organizer
  信州大学先鋭領域融合研究群バイオメディカル研究所設立記念講演会・記念講演会
- Place of Presentation
  信州大学医学部（長野県松本市）
- Year and Date
  2014-05-25
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーによる遺伝子解析2014
- Author(s)
  松本　直道
- Organizer
  第56回日本先天代謝異常学会総会
- Place of Presentation
  江陽グランドホテル・仙台（宮城県仙台市）
- Year and Date
  2014-11-14
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 難病を解き明かすヒト全遺伝子・全ゲノム解析2014
- Author(s)
  松本　直通
- Organizer
  横浜市立大学先端医科学研究センター市民講座
- Place of Presentation
  ウィング横浜（神奈川県）
- Year and Date
  2014-08-07
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ゲノム解析と医療--1000ドルゲノム時代を迎えて--2014
- Author(s)
  松本　直道
- Organizer
  KOBE内分泌・代謝スキルアップセミナー特別講演
- Place of Presentation
  ホテルクラウンパレス神戸（兵庫県神戸市）
- Year and Date
  2014-08-23
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Coffin-Siris症候群の新規遺伝子探索2014
- Author(s)
  松本　直通
- Organizer
  NCNP（精神・神経疾患研究開発費（後藤班）平成26年度報告会
- Place of Presentation
  NCNP（東京都）
- Year and Date
  2014-12-09
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いた染色体・ゲノム構造異常解析2014
- Author(s)
  松本　直道
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀・東京（東京都江戸川区）
- Year and Date
  2014-11-21
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて2014
- Author(s)
  松本　直道
- Organizer
  藤田保健衛生大学遺伝子網羅的解析センター開所記念セミナー・特別講演
- Place of Presentation
  藤田保健衛生大学（愛知県豊明市）
- Year and Date
  2014-06-21
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析2013
- Author(s)
  大塚泰史、佐々木健作、城崎幸介、東元健、岡本信彦、高間勇一、窪田昭男、松本富美、中山雅弘、吉浦孝一郎、副島英伸
- Organizer
  第48回日本小児腎臓病学会
- Place of Presentation
  徳島
- Data Source
  KAKENHI-PROJECT-25461554
[Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood2013
- Author(s)
  N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
- Organizer
  European Conference of Human Genetic 2013
- Place of Presentation
  Palais des Congres（フランス・パリ）
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト2013
- Author(s)
  松本直通
- Organizer
  現場の会第三回研究会
- Place of Presentation
  神戸国際会議場（兵庫県）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] ヒト疾患エクソーム解析の現状と課題2013
- Author(s)
  松本直通
- Organizer
  第58回日本人類遺伝学会大会
- Place of Presentation
  江陽グランドホテル仙台（宮城県）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Early-onset epileptic encephalopathies caused by PIGA gene mutation.2013
- Author(s)
  Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Matsuura R, Takayama R, Hamano S, Kinoshita T, Hayasaka K, Matsumoto N
- Organizer
  American Epilepsy Society Annual Meeting 2013
- Place of Presentation
  Walter E. Washington Convention Center, Washington, D.C., USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] GENE ANALYSIS IN PATIENTS WITH NON-SYNDROMIC AORTIC ANEURYSM AND DISSECTION.2013
- Author(s)
  Suzuki S, Masuda M, Goda M, Katayama Y, Sakai A, Matsumoto N.
- Organizer
  The Houston Aortic Symposium : Frontiers in Cardiovascular Diseases, the Sixth in the Series.
- Place of Presentation
  Houston, USA
- Data Source
  KAKENHI-PROJECT-23592045
[Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-2013
- Author(s)
  松本直通
- Organizer
  日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
- Place of Presentation
  秋葉原コンベンションホ―ル（東京都）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析：現状と限界2013
- Author(s)
  松本直通
- Organizer
  第22回発達腎研究会
- Place of Presentation
  高槻市生涯学習センター（大阪府）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析2013
- Author(s)
  松本直通
- Organizer
  CiRA genomics epigenomics and bioinformatics seminar series VIII
- Place of Presentation
  CiRA京都大学（京都府）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Establishment and Validation of iPS Cells and Knockout Mice for dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS)2013
- Author(s)
  Kosho T, Yue F, Saka S, Tsumita N, Kasahara Y, Okada T, Mizumoto S, Kobayashi M, Nakayama J, Miyake N, Nomura Y, Era T, Hatamochi A, Fukushima Y, Matsumoto N, Sugahara K, Sasaki K, Takeda S
- Organizer
  American Society of Human Genetics 63nd Annual Meeting
- Place of Presentation
  Boston Convention Center, Boston, USA
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析2013
- Author(s)
  大塚泰史、佐々木健作、城崎幸介、東元健、岡本信彦、高間勇一、窪田昭男、松本富美、中山雅弘、吉浦孝一郎、副島英伸．
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  宮城
- Data Source
  KAKENHI-PROJECT-25461554
[Presentation] 次世代シーケンス解析で分かってきたこと2013
- Author(s)
  松本直通
- Organizer
  第18回山形小児神経研究会
- Place of Presentation
  パレスグランデール（山形県）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] デルマタン4-O-硫酸基転移酵素（D4ST1）欠損によるEhlers-Danlos症候群（DDEDS）の疾患モデルの構築と検証2013
- Author(s)
  古庄知己、岳鳳鳴、坂翔太、積田奈々、笠原優子、岡田尚巳、水本秀二、小林身哉、中山淳、三宅紀子、野村義宏、江良択実、籏持淳、石川真澄、涌井敬子、福嶋義光、松本直通、菅原一幸、佐々木克典、武田伸一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル（宮城県仙台市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] Mendelian Exome Analysis2013
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 10th International Workshop on Advanced Genomics
- Place of Presentation
  National Center of Sciences（東京都）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] 次世代シーケンサーを用いてわかってきたこと2013
- Author(s)
  松本直通
- Organizer
  第17回小児分子内分泌研究会
- Place of Presentation
  札幌北広島クラッセホテル（北海道）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria.2013
- Author(s)
  Murakami Y, Kato M, Saitsu H, Kikuchi K, Watanabe S, Iai M, Matsuura R, Takayama R, Ohba C, Hamano S, Osaka H, Hayasaka K, Matsumoto N, Kinoshita T
- Organizer
  55th American Society of Hematology Annual Meeting and Exposition
- Place of Presentation
  Ernest N. Morial Convention Center, New Orleans, USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] GENE ANALYSIS IN PATIENTS WITH NON-SYNDROMIC AORTIC ANEURYSM AND DISSECTION2013
- Author(s)
  Suzuki S, Masuda M, Goda M, Katayama Y, Sakai A, Matsumoto N.
- Organizer
  The Houston Aortic Symposium : Frontiers in Cardiovascular Diseases, the Sixth in the Series
- Place of Presentation
  Houston, USA
- Data Source
  KAKENHI-PROJECT-23592045
[Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性2013
- Author(s)
  松本直通
- Organizer
  第20回日本遺伝子診療学会大会
- Place of Presentation
  アクトシティ―浜松コングレスセンター（静岡県）
- Invited
- Data Source
  KAKENHI-ORGANIZER-24118001
[Presentation] Phenotypic spectrum of SPTAN1 encephalopathy.2013
- Author(s)
  Tohyama J, Akasaka N, Writzl K, Nonoda Y, Hamdan FF, Michaud JL, Osaka H, Shimono M, Kato M, Matsumoto N, Saitsu H.
- Organizer
  30th International Epilepsy Congress
- Place of Presentation
  Palais des congres de Montreal, Montreal, Canada
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] 遺伝性疾患の効率的な次世代シーケンス解析2012
- Author(s)
  松本直通
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル・東京
- Year and Date
  2012-10-25
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Exome sequencing in mendelian disorders.2012
- Author(s)
  Matsumoto N
- Organizer
  Translational Genomics Conference 2012
- Place of Presentation
  ハイアットリージェンシー済州島・韓国
- Year and Date
  2012-10-13
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] 遺伝性疾患のエクソーム解析2012
- Author(s)
  松本直通
- Organizer
  Advans研究会2012
- Place of Presentation
  ホテルグランドパレス・東京
- Year and Date
  2012-12-15
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Medelian exome2012
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 12th annual meeting of East Asian Union of Human Genetics Societies.
- Place of Presentation
  Seoul National University Hospital, Seoul, Korea
- Year and Date
  2012-11-29
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Ohtahara syndrome and other neonatal-onset epileptic encephalopathies caused by missense mutations of the KCNQ2 gene.2012
- Author(s)
  Kato M, Saitsu H, Yamagata T, Arai H, Fujii T, Hirata Y, Kusama Y, Yamashita S, Nakagawa T, Koide A, Goto T, Kubota M, Fujita T, Ihara Y, Sugai K, Saito K, Hayasaka K, Matsumoto N
- Organizer
  American Epilepsy Society 2012 Annual meeting
- Place of Presentation
  San Diego Convention Center, San Diego, USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012
- Author(s)
  Matsumoto N
- Organizer
  American Society of Human Genetics Meeting2012
- Place of Presentation
  Moscone Center, San Francisco, CA, USA
- Year and Date
  2012-11-08
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 発達障害におけるゲノム解析:次世代技術を用いて2012
- Author(s)
  松本直通
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡国際会議場・福岡
- Year and Date
  2012-12-13
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] エクソーム解析2012
- Author(s)
  松本直通
- Organizer
  第152回染色体研究会
- Place of Presentation
  東京医科大学病院・東京
- Year and Date
  2012-12-01
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Isolation of genes causative for genetic diseases by next generation sequencer2012
- Author(s)
  Naomichi Matsumoto
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル・東京
- Year and Date
  2012-10-25
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Mendelian exome.2012
- Author(s)
  Matsumoto N
- Organizer
  The 12^<th> annual meeting of East Asian Union of Human Genetics Societies.
- Place of Presentation
  ソウル国立大学病院・ソウル・韓国
- Year and Date
  2012-11-29
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] Exome sequencing in mendelian disorders.2012
- Author(s)
  Naomichi Matsumoto
- Organizer
  Translational Genomics Conference 2012
- Place of Presentation
  Hyatt Reagency Jeju, Jeju, Korea
- Year and Date
  2012-10-13
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 自閉症スペクトラムとてんかんに着目したゲノム解析2012
- Author(s)
  松本直通
- Organizer
  第34回日本生物学的精神医学会
- Place of Presentation
  神戸国際会議場・兵庫
- Year and Date
  2012-09-28
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 遺伝性疾患のエクソーム解析2012
- Author(s)
  松本直通
- Organizer
  生命医薬情報学連合大会2012
- Place of Presentation
  タワーホール船堀・東京
- Year and Date
  2012-10-17
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 遺伝性神経疾患のエクソーム解析2011
- Author(s)
  松本直通
- Organizer
  国立精神・神経医療研究センターTMC棟/クラスター研究棟開棟記念講演会
- Place of Presentation
  国立精神・神経医療研究センター・小平(招待講演)
- Year and Date
  2011-11-22
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] ヒト遺伝性疾患の原因解明を目指して2011
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ・千葉(学会賞受賞講演)(招待講演)
- Year and Date
  2011-11-11
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] もやもや病の遺伝学:最近わかってきたこと2011
- Author(s)
  松本直通
- Organizer
  大阪難症例脳血管疾患研究会・大阪もやもや病研究会
- Place of Presentation
  千里阪急ホテル・大阪(招待講演)
- Year and Date
  2011-06-18
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] ヒト遺伝性疾患の原因解明を目指して2011
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ・千葉(学会賞受賞講演)(招待講演)
- Year and Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Loss-of-function mutations of dermatan 4-O-sulfotransferase-1 cause a new type of Ehlers-Danlos syndrome2011
- Author(s)
  Shuji Mizumoto, Noriko Miyake, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara, and Naomichi Matsumoto
- Organizer
  The 9th International Symposium for Future Drug Discovery and Medical Care
- Place of Presentation
  Hokkaido Univ、(Poster)
- Year and Date
  2011-09-30
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] 次世代シーケンサーを用いたヒト疾患ゲノム解析法2011
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ・千葉(招待講演)
- Year and Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析の現状2011
- Author(s)
  松本直通
- Organizer
  第18回遺伝性疾患に関する出生前診断研究会
- Place of Presentation
  佐賀大学医学部・佐賀(招待講演)
- Year and Date
  2011-10-01
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析の現状2011
- Author(s)
  松本直通
- Organizer
  第18回遺伝性疾患に関する出生前診断研究会
- Place of Presentation
  佐賀大学医学部・佐賀(招待講演)
- Year and Date
  2011-10-01
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] コンドロイチン硫酸/デルマタン硫酸の生合成に関わる酵素の欠損による骨・皮膚疾患2011
- Author(s)
  水本秀二,三宅紀子,古庄知己, Mirjam H.H. van Roij, Beyhan Tuysuz,Stefan Mundlos, Stephen P. Robertson, 山田修平, 松本直通, 菅原一幸
- Organizer
  第30回日本糖質学会年会
- Place of Presentation
  長岡リリックホール、(口頭発表)
- Year and Date
  2011-07-11
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] Disease genome analysis using next generation sequencer2011
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 34^<th> annual meeting of the molecular biology society of Japan
- Place of Presentation
  Pacifico Yokohama, Yokohama(Invited speaker)
- Year and Date
  2011-12-14
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] コンドロイチン硫酸/デルマタン硫酸の生合成に関わる酵素の欠損による骨・皮膚疾患2011
- Author(s)
  ○水本秀二, 三宅紀子, 古庄知己, Mirjam H.H. van Roij, Beyhan Tuysuz, Stefan Mundlos, Stephen P. Robertson, 山田修平, 松本直通, 菅原一幸
- Organizer
  第30回日本糖質学会年会
- Place of Presentation
  長岡リリックホール(新潟県)
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] 次世代シーケンサーを用いたヒト疾患ゲノム解析法2011
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ・千葉(招待講演)
- Year and Date
  2011-11-11
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] Identification of two epilepsy-related genes from a 2.25-Mb microdeletion in one patient2011
- Author(s)
  Naomichi Matsumoto
- Organizer
  Invited lecture at Department of Human Genetics
- Place of Presentation
  Leiden University, Leiden, The Netherland
- Year and Date
  2011-03-26
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Loss-of-function mutations of dermatan 4-O-sulfotransferase-1 cause a new type of Ehlers-Danlos syndrome2011
- Author(s)
  ◯Shuji Mizumoto, Noriko Miyake, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara, and Naomichi Matsumoto
- Organizer
  The 9th International Symposium for Future Drug Discovery and Medical Care
- Place of Presentation
  Hokkaido Univ. (Sapporo)
- Data Source
  KAKENHI-PROJECT-23790066
[Presentation] もやもや病の遺伝学:最近わかってきたこと2011
- Author(s)
  松本直通
- Organizer
  大阪難症例脳血管疾患研究会・大阪もやもや病研究会
- Place of Presentation
  千里阪急ホテル・大阪(招待講演)
- Year and Date
  2011-06-18
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] 次世代シーケンス法による疾患研究の最前線2011
- Author(s)
  松本直通
- Organizer
  第一回サイトジェノミクスセミナー
- Place of Presentation
  三菱化学メディエンス志村事業所・東京(招待講演)
- Year and Date
  2011-09-17
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 次世代シーケンス法による疾患研究の最前線2011
- Author(s)
  松本直通
- Organizer
  第一回サイトジェノミクスセミナー
- Place of Presentation
  三菱化学メディエンス志村事業所・東京(招待講演)
- Year and Date
  2011-09-17
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] 遺伝性神経疾患のエクソーム解析2011
- Author(s)
  松本直通
- Organizer
  国立精神・神経医療研究センターTMC棟/クラスター研究棟開棟記念講演会
- Place of Presentation
  国立精神・神経医療研究センター・小平(招待講演)
- Year and Date
  2011-11-22
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] Disease genome analysis using next generation sequencer2011
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 34^<th> annual meeting of the molecular biology society of Japan
- Place of Presentation
  Pacifico Yokohama, Yokohama(invited speaker)
- Year and Date
  2011-12-14
- Data Source
  KAKENHI-PUBLICLY-23110513
[Presentation] Haploinsufficienty of STXBP1 causes Ohtahara syndrome2010
- Author(s)
  Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
- Organizer
  Joint Egyptian-Japanese Scientific Workshop
- Place of Presentation
  National Research Center, Cairo, Egypt
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 染色体異常からの疾患遺伝子探索2010
- Author(s)
  松本直通
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  岩手県民情報交流センター、盛岡(シンポジスト)
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Identification of two genes responsible for age-dependent epileptic encephalopathy2010
- Author(s)
  Matsumoto N
- Organizer
  第22回NIH金曜会
- Place of Presentation
  Bethesda, MD, USA(invited speaker)
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Microarray technologies : Hightways to genomic aberrations2010
- Author(s)
  Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
- Organizer
  Joint Egyptian-Japanese Scientific Workshop
- Place of Presentation
  National Research Center, Cairo, Egypt
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Identification of two epilepsy-related genes from a 2.25-Mb deletion in one patient.2010
- Author(s)
  Matsumoto N
- Organizer
  The 4^<th> Asian Chromosome Colloquium
- Place of Presentation
  Beijing, China(invited speaker)
- Year and Date
  2010-10-13
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 疾患ゲノム解析:遺伝性疾患のエクソーム解析2010
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮ソニックシティ、大宮(シンポジスト)
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Microarray technologies : Hightways to genomic aberrations2010
- Author(s)
  Matsumoto N
- Organizer
  Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
- Place of Presentation
  Cairo, Egypt(invited speaker)
- Year and Date
  2010-10-03
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] A new clinical epileptic syndrome caused by SPTAN1 mutation2010
- Author(s)
  Tohyama J, Kato M, Matsumoto N.(7名6番目)
- Organizer
  8th Asian & Oceanian Epilepsy Congress, Melbourne Convention and Exhibition Centre
- Place of Presentation
  Melbourne, Australia
- Data Source
  KAKENHI-PROJECT-21591312
[Presentation] Isolation of the gene responsible for a new type of Ehlers-Danlos syndrome2010
- Author(s)
  Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
- Organizer
  Joint Egyptian-Japanese Scientific Workshop
- Place of Presentation
  National Research Center, Cairo, Egypt
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.2010
- Author(s)
  Matsumoto N, others
- Organizer
  European Human Genetic Conference 2010
- Place of Presentation
  Gothenburg, Sweden
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
- Organizer
  American Society of Human Genetics (oral presentation)
- Place of Presentation
  アメリカ・ワシントンDC
- Year and Date
  2010-11-03
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] 年齢依存性てんかん性脳症の新知見2010
- Author(s)
  松本直通
- Organizer
  久留米大学Pediatric Ground Rounds
- Place of Presentation
  久留米大学医学部、久留米(招聘講演)
- Year and Date
  2010-07-16
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Haploinsufficienty of STXBP1 causes Ohtahara syndrome2010
- Author(s)
  Matsumoto N
- Organizer
  Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
- Place of Presentation
  Cairo, Egypt(invited speaker)
- Year and Date
  2010-10-04
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Isolation of the gene responsible for a new type of Ehlers-Danlos syndrome2010
- Author(s)
  Matsumoto N
- Organizer
  Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
- Place of Presentation
  Cairo, Egypt(invited speaker)
- Year and Date
  2010-10-03
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern2009
- Author(s)
  Matsumoto N
- Organizer
  The international symposium in the 9^<th> Annual Meeting of the East Asian Union of Human Genetic Society
- Place of Presentation
  ソウル・韓国
- Year and Date
  2009-11-19
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] Anaysis of copy number changes in Aicardi syndrome2009
- Author(s)
  Miyake N, Kato M, Saitsu H, Mizuguchi T, Matsumoto N
- Organizer
  The American Society of Human Genetics 59^<th> Annual Meeting
- Place of Presentation
  Honolulu, Hawaii, USA
- Year and Date
  2009-10-22
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] 疾患ゲノム解析の新戦略2009
- Author(s)
  松本直通
- Organizer
  第44回日本小児腎臓病学会学術集会
- Place of Presentation
  一橋記念講堂・東京
- Year and Date
  2009-06-26
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] Evaluation of Affymetrix^<(R)> Cytogenetics Whole-Genome Array Using Clinical Sample2009
- Author(s)
  松本直通
- Organizer
  Asin Cytogeentics Community Workshop(by Affymetrix Inc.)
- Place of Presentation
  ホノルル・ハワイ
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Aicardi症候群における微細胞染色体異常の検索2009
- Author(s)
  三宅紀子、加藤光広、才津浩智、水口剛、松本直通
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  グランドプリンスホテル高輪
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern(oral presentation).2009
- Author(s)
  Naomichi Matsumoto
- Organizer
  The international symposium in the 9^<th> Annual Meeting of the East Asian Union of Human Genetic Society
- Place of Presentation
  Soel, Korea
- Year and Date
  2009-11-19
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 年齢依存性てんかん性脳症の最近の話題2009
- Author(s)
  松本直通
- Organizer
  第51回日本小児神経学会関東地方会
- Place of Presentation
  横浜市開港記念会館・横浜
- Year and Date
  2009-09-19
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] Asin Cytogenetics Community Workshop(by Affymetrix Inc.) Naomichi Matsumoto2009
- Author(s)
  Naomichi Matsumoto
- Organizer
  Evaluation of AffymetrixR Cytogenetics Whole-Genome Array Using Clinical Sample
- Place of Presentation
  Honolulu, Hawaii, HI
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Evaluation of Affymetri^[○!R] Cytogenetics Whole-Genome Array Using Clinical Sample.2009
- Author(s)
  Matsumoto N
- Organizer
  Asin Cytogeentics Community Workshop (by Affy metrix Inc.)
- Place of Presentation
  ホノルル・ハワイ
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] De novo mutations in STXBP1 cause early infantile epileptic encephalopathy2009
- Author(s)
  Matsumoto N, Saitsu H
- Organizer
  European Human Genetics Conference 2009
- Place of Presentation
  オーストリア・ウィーン
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] De novo mutations in STXBP1 cause early infantile epileptic encephalopathy.2009
- Author(s)
  Matsumoto N, Saitsu H
- Organizer
  European Human Genetics Conference 2009
- Place of Presentation
  オーストリア・ウィーン
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] 年齢依存性てんかん性脳症の最近の話題2009
- Author(s)
  松本直通
- Organizer
  第51回日本小児神経学会関東地方会
- Place of Presentation
  横浜市開港記念会館・横浜
- Year and Date
  2009-09-19
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 疾患ゲノム解析の新戦略2009
- Author(s)
  松本直通
- Organizer
  第44回日本小児腎臓病学会学術集会
- Place of Presentation
  -橋記念講堂・東京
- Year and Date
  2009-06-26
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Aicardi症候群の疾患責任遺伝子の単離研究2009
- Author(s)
  三宅紀子、加藤光広、才津浩智、水口剛、松本直通
- Organizer
  第16回日本遺伝子診療学会
- Place of Presentation
  ホテル札幌ガーデンパレス
- Year and Date
  2009-08-01
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern2009
- Author(s)
  松本直通
- Organizer
  The international symposium in the 9^<th> Annual Meeting of the East Asian Union of Human Genetic Society
- Place of Presentation
  ソウル・韓国
- Year and Date
  2009-11-19
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Alu-related 5q35 microdeletions in Sotos syndrome2008
- Author(s)
  Matsumoto N, Mochizuki J
- Organizer
  58th Annual Meeting of American Society of Human Genetics
- Place of Presentation
  アメリカ・ペンシルベニア
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] Alu-related 5q35 microdeletions in Sotos syndrome2008
- Author(s)
  Matsumoto N, Mochizuki J
- Organizer
  European Human Genetics Conference 2008
- Place of Presentation
  スペイン・バルセロナ
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  Matsumoto N, others
- Organizer
  The international symposium in the 8^<th> Annual Meeting of the East Asian Union of Human Genetic Society
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] アレーを用いて疾患遺伝子を単離する2008
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  横浜
- Year and Date
  2008-09-30
- Data Source
  KAKENHI-PROJECT-20023024
[Presentation] 染色体構造異常と疾患遺伝子(シンポジスト)2007
- Author(s)
  松本直通
- Organizer
  第30回日本分子生物学会
- Place of Presentation
  横浜
- Year and Date
  2007-12-15
- Data Source
  KAKENHI-PROJECT-18023031
[Presentation] BAC array CGH: seven years experience. (invited lecture)2007
- Author(s)
  松本直通
- Organizer
  第5回サイトミクス研究会
- Place of Presentation
  東京
- Year and Date
  2007-11-02
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Chromosomal abnormalities and disease genes2007
- Author(s)
  Naomichi, Matsumoto
- Organizer
  BMB2007
- Place of Presentation
  Yokohama
- Year and Date
  2007-12-12
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] 染色体構造異常と疾患遺伝子(シンポジスト)2007
- Author(s)
  松本直通
- Organizer
  第30回日本分子生物学会
- Place of Presentation
  横浜
- Year and Date
  2007-12-15
- Data Source
  KAKENHI-PROJECT-19040023
[Presentation] Angelman syndrome caused by and identical familial 1487-kb deletion2007
- Author(s)
  Matsumoto N, Iwakoshi M
- Organizer
  European Human Genetics Conference 2006
- Place of Presentation
  フランス・ニース
- Data Source
  KAKENHI-PROJECT-18023031
[Presentation] Chromosomal submicroscopic changes. (invited lecture)2007
- Author(s)
  Matsumoto N
- Organizer
  The 1st National Summer Program of Graduates in Medical Genetics in China
- Place of Presentation
  中国・長沙
- Year and Date
  2007-08-07
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Angelman syndrome caused by an identical familial 1487-kb deletion.2007
- Author(s)
  Matsumoto N, Iwakoshi M
- Organizer
  European Human Genetics Conference 2006
- Place of Presentation
  フフンス・ニース
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Chromosomal submicroscopic changes2007
- Author(s)
  Naomichi, Matsumoto
- Organizer
  The 1st National Summer Program of Graduates in Medical Genetics in China
- Place of Presentation
  Changsha, China
- Year and Date
  2007-08-07
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] 染色体構造異常と疾患遺伝子(シンポジスト)2007
- Author(s)
  松本直通
- Organizer
  第30回日本分子生物学会
- Place of Presentation
  横浜
- Year and Date
  2007-12-15
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Angelman syndrome caused by an identical familial 1487-kb deletion.2007
- Author(s)
  Matsumoto N, Iwakoshi M
- Organizer
  European Human Genetics Conference 2006
- Place of Presentation
  フランス・ニース
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] BAC array CGH:seven years experience.(invited lecture)2007
- Author(s)
  松本直通
- Organizer
  第5回サイトミク研究会
- Place of Presentation
  東京
- Year and Date
  2007-11-02
- Data Source
  KAKENHI-PROJECT-18023031
[Presentation] Chromosomal submicroscopic changes.(invited lecture)2007
- Author(s)
  Matsumoto N
- Organizer
  The 1st National Summer Program of Graduates in Medical Genetics in China
- Place of Presentation
  中国・長沙
- Year and Date
  2007-08-07
- Data Source
  KAKENHI-PROJECT-19040023
[Presentation] Angelman syndrome caused by an identical familial 1487-kb deletion2007
- Author(s)
  Naomichi, Matsumoto
- Organizer
  European Human Genetics Conference 2006
- Place of Presentation
  Nice, France
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Chromosomal submicroscopic changes. (invited lecture)2007
- Author(s)
  Matsumoto N
- Organizer
  The 1st National Summer Program of Graduates in Medical Genetecs in China
- Place of Presentation
  中国・長沙
- Year and Date
  2007-08-07
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] Angelman syndrome caused by an identical familial 1487-kb deletion.2007
- Author(s)
  Matsumoto N, Iwakoshi M
- Organizer
  European Human Genetics Conference 2006
- Place of Presentation
  フランス・ニース
- Data Source
  KAKENHI-PROJECT-19040023
[Presentation] BAC array CGH:seven years experience.(invited lecture)2007
- Author(s)
  松本直通
- Organizer
  第5回サイトミクス研究会
- Place of Presentation
  東京
- Year and Date
  2007-11-02
- Data Source
  KAKENHI-PROJECT-19040023
[Presentation] Chromosomal submicroscopic changes.(invited lecture)2007
- Author(s)
  Matsumoto N
- Organizer
  The 1st National Summer program of Graduates in Med ical Genetics in China
- Place of Presentation
  中国・長沙
- Year and Date
  2007-08-07
- Data Source
  KAKENHI-PROJECT-18023031
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析
- Author(s)
  松本直通
- Organizer
  CiRA genomics epigenomics and bioinformatics seminar series VIII
- Place of Presentation
  CiRA京都大学・京都府京都市
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 自閉症スペクトラムとてんかんに着目したゲノム解析
- Author(s)
  松本直通
- Organizer
  第34回日本生物学的精神医学会
- Place of Presentation
  神戸国際会議場・兵庫
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 疾患ゲノム解析の新戦略(特別講演)
- Author(s)
  松本直通
- Organizer
  第44回日本小児腎臓病学会学術集会
- Place of Presentation
  一橋記念講堂・東京
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 年齢依存性てんかんの最近の話題(招聘講演)
- Author(s)
  松本直通
- Organizer
  第44回遺伝医学研究会(東京女子医科大学)
- Place of Presentation
  東京女子医科大学・早稲田大学連携生命科学研究教育施設
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Exome analysis in mendelian disorders
- Author(s)
  Naomichi Matsumoto
- Organizer
  2012 Illumina Asica Pcific Scientific Summit
- Place of Presentation
  Sheraton Mirage Resort & Spa Gold Coast, Gold Coast, Austraria
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析：現状と限界
- Author(s)
  松本直通
- Organizer
  第22回発達腎研究会
- Place of Presentation
  高槻市生涯学習センター・大阪府高槻市
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] ヒト疾患エクソーム解析の現状と課題
- Author(s)
  松本直通
- Organizer
  第58回日本人類遺伝学会大会
- Place of Presentation
  江陽グランドホテル仙台・宮城県仙台市
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 発達障害におけるゲノム解析：次世代技術を用いて
- Author(s)
  松本直通
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡国際会議場・福岡
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] SCN8Aのde novo変異が原因となる乳児期早期発症の難治性てんかんについての検討．
- Author(s)
  大場ちひろ、加藤光広、高橋悟、寺嶋宙、久保田雅也、川脇壽、松藤まゆみ、小島泰子、舘野昭彦、中島光子、西山精視、鶴崎美徳、三宅紀子、田中章景、才津浩智、松本直通
- Organizer
  日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会合同大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] Identification of two genes responsible for age-dependent epileptic encephalopathy
- Author(s)
  Naomichi Matsumoto
- Organizer
  第22回NIH金曜会
- Place of Presentation
  National Institute of Health, Bethesda
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] Mendelian Exome Analysis
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 10th International Workshop on Advanced Genomics
- Place of Presentation
  National Center of Sciences, Tokyo
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Identification of two epilepsy-related genes from a 2.25-Mb deletion in one patient
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 4^<th> Asian Chromosome Colloquium
- Place of Presentation
  Beijing, China
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 次世代シーケンス解析で分かってきたこと
- Author(s)
  松本直通
- Organizer
  第18回山形小児神経研究会
- Place of Presentation
  パレスグランデール・山形県山形市
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Isolation of genes causative for genetic diseases by next generation sequencer
- Author(s)
  Naomichi Matsumoto
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] グリコサミノグリカンの生合成に関わる酵素の新規変異による脊椎骨端骨幹端異形成症とエーラス・ダンロス症候群の糖鎖生物学的研究
- Author(s)
  ○水本秀二, 中島正宏, Thomas Muller, 三宅紀子, Indrajit Suresh, 古川諒, 小松由枝, 松本直通, Andreas R Janecke, 池川志郎, 菅原一幸
- Organizer
  第32回日本糖質学会年会
- Place of Presentation
  大阪国際交流センター（大阪）
- Data Source
  KAKENHI-PROJECT-25860037
[Presentation] 年齢依存性てんかん性脳症の最近の話題(特別講演)
- Author(s)
  松本直通
- Organizer
  第51回日本小児神経学会関東地方会
- Place of Presentation
  横浜市開港記念会館
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] D4ST1欠損に基づくEhlers-Danlos症候群の遺伝子解析状況
- Author(s)
  古庄知己、三宅紀子、福嶋義光、松本直通
- Organizer
  第36回日本小児遺伝学会
- Place of Presentation
  エソール広島（広島県広島市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] 疾患ゲノム解析:遺伝性疾患のエクソーム解析(次世代シーケンサーを用いたヒト(疾患)ゲノム解析の現状セッション・シンポジスト・座長)
- Author(s)
  松本直通
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] コンドロイチン硫酸/デルマタン硫酸の生合成に関わる酵素の変異による骨・皮膚疾患の糖鎖生物学的研究
- Author(s)
  ○水本秀二, 中島正宏, Thomas Muller, 三宅紀子, Indrajit Suresh, 古川諒, 小松由枝, 松本直通, Andreas R Janecke, 池川志郎, 菅原一幸
- Organizer
  日本生化学会北海道支部支部例会第50回記念大会
- Place of Presentation
  北海道大学医学部(札幌)
- Data Source
  KAKENHI-PROJECT-25860037
[Presentation] BAC array CGH: seven years experience
- Author(s)
  Naomichi, Matsumoto
- Organizer
  The 5th Cytomics conference
- Place of Presentation
  Tokyo
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390108
[Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト
- Author(s)
  松本直通
- Organizer
  現場の会第三回研究会
- Place of Presentation
  神戸国際会議場・兵庫県神戸市
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] ヒト疾患エクソーム解析の現状と課題
- Author(s)
  松本直通
- Organizer
  第58回日本人類遺伝学会大会
- Place of Presentation
  江陽グランドホテル仙台・宮城県仙台市
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 次世代シーケンス解析で分かってきたこと
- Author(s)
  松本直通
- Organizer
  第18回山形小児神経研究会
- Place of Presentation
  パレスグランデール・山形県山形市
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患の効率的な次世代シーケンス解析
- Author(s)
  松本直通
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いてわかってきたこと
- Author(s)
  松本直通
- Organizer
  第17回小児分子内分泌研究会
- Place of Presentation
  札幌北広島クラッセホテル・北海道
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Medelian exome
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 12th annual meeting of East Asian Union of Human Genetics Societies.
- Place of Presentation
  Seoul National University Hospital, Seoul, Korea
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患のエクソーム解析
- Author(s)
  松本直通
- Organizer
  Advans研究会2012
- Place of Presentation
  ホテルグランドパレス・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性
- Author(s)
  松本直通
- Organizer
  第20回日本遺伝子診療学会大会
- Place of Presentation
  アクトシティ―浜松コングレスセンター・静岡県浜松市
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] Genetic abnormalities in Coffin-Siris syndrome
- Author(s)
  Naomichi Matsumoto
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Nuremberg Conference Center, Nuremberg, Germany
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- Author(s)
  Matsumoto N
- Organizer
  American Society of Human Genetics Meeting2012
- Place of Presentation
  Moscone Center, San Francisco, CA, USA
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-
- Author(s)
  松本直通
- Organizer
  日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
- Place of Presentation
  秋葉原コンベンションホ―ル・東京
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 小児神経疾患における遺伝子研究の新潮流
- Author(s)
  松本直通
- Organizer
  第5回みやこ小児神経臨床懇話会
- Place of Presentation
  メルパルク京都・京都
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト
- Author(s)
  松本直通
- Organizer
  現場の会第三回研究会
- Place of Presentation
  神戸国際会議場・兵庫県神戸市
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood
- Author(s)
  N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
- Organizer
  European Conference of Human Genetic 2013
- Place of Presentation
  Palais des Congrès, Paris, France
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-
- Author(s)
  松本直通
- Organizer
  日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
- Place of Presentation
  秋葉原コンベンションホ―ル・東京都
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患のエクソーム解析
- Author(s)
  松本直通
- Organizer
  生命医薬情報学連合大会2012
- Place of Presentation
  タワーホール船堀・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析：現状と限界
- Author(s)
  松本直通
- Organizer
  第22回発達腎研究会
- Place of Presentation
  高槻市生涯学習センター・大阪府高槻市
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Exome sequencing in mendelian disorders.
- Author(s)
  Naomichi Matsumoto
- Organizer
  Translational Genomics Conference 2012
- Place of Presentation
  Hyatt Reagency Jeju, Jeju, Korea
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] Mendelian Exome Analysis
- Author(s)
  Naomichi Matsumoto
- Organizer
  The 10th International Workshop on Advanced Genomics
- Place of Presentation
  National Center of Sciences, Tokyo
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood
- Author(s)
  N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
- Organizer
  European Conference of Human Genetic 2013
- Place of Presentation
  Palais des Congrès, Paris, France
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] エクソーム解析
- Author(s)
  松本直通
- Organizer
  第152回染色体研究会
- Place of Presentation
  東京医科大学病院・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 次世代シーケンサーを用いた疾患ゲノム解析
- Author(s)
  松本直通
- Organizer
  CiRA genomics epigenomics and bioinformatics seminar series VIII
- Place of Presentation
  CiRA京都大学・京都府京都市
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 先天性疾患における最近の進歩:病態解明から遺伝子診断へ
- Author(s)
  松本直通
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  岩手県民情報交流センター、盛岡
- Data Source
  KAKENHI-PROJECT-21249024
[Presentation] 次世代シーケンサーを用いてわかってきたこと
- Author(s)
  松本直通
- Organizer
  第17回小児分子内分泌研究会
- Place of Presentation
  札幌北広島クラッセホテル・北海道
- Invited
- Data Source
  KAKENHI-PLANNED-24118007
[Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性
- Author(s)
  松本直通
- Organizer
  第20回日本遺伝子診療学会大会
- Place of Presentation
  アクトシティ―浜松コングレスセンター・静岡県浜松市
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
[Presentation] 遺伝性疾患のエクソーム解析
- Author(s)
  松本直通
- Organizer
  2012 イルミナ次世代シーケンサーユーザーフォーラム
- Place of Presentation
  東京国際フォーラム・東京
- Invited
- Data Source
  KAKENHI-PROJECT-24249019
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166. 伊東秀記

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168. 木下直江

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170. 飛彈麻里子

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171. 河野通浩

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172. 秋山真志

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173. 鈴木厚

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174. 長嶋洋治

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175. 衛藤義勝

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176. HOSSAIN ARIF

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# of Collaborated Products: 1 results
177. WU CHEN

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# of Collaborated Products: 1 results
178. 志牟田美佐

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# of Collaborated Products: 1 results

Matsumoto Naomichi 松本 直通

MATSUMOTO Naomichi 松本 直通

松本 直道 マツモト ナオミチ

Research Projects

Research Products

Co-Researchers

Optical Genome Mapping of Rare Genetic Disorders: Complete Elucidation of Pathological Structural VariantsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Disease-related genome analyses by long-read sequencersPrincipal Investigator

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Matsumoto Naomichi 松本直通

MATSUMOTO Naomichi 松本直通

松本直道マツモトナオミチ