Miyake Noriko 三宅紀子

… Alternative Names

MIYAKE Noriko 三宅紀子

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Researcher Number	40523494
Other IDs
Affiliation (Current)	2025: 国立健康危機管理研究機構, 国立国際医療研究所, 部長
Affiliation (based on the past Project Information) *help	2020 – 2024: 国立研究開発法人国立国際医療研究センター, 研究所, 疾患ゲノム研究部部長 2010 – 2020: Yokohama City University, 医学部, 准教授 2018: 横浜市立大学, 医学研究科, 准教授 2014 – 2015: 横浜市立大学, 医学研究科, 准教授 2012: 横浜市立大学, 医学研究科, 准教授 2009: Yokohama City University, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics Except Principal Investigator Biological pharmacy / Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Biological Sciences
Keywords	Principal Investigator 新規疾患遺伝子 / 単一遺伝子疾患 / 分子遺伝学 / Multi-Omics / 網羅的ゲノム解析 / 全エクソーム解析 / 全ゲノムシークエンス / 次世代シークエンサー / 人類遺伝学 / 連鎖解析 … More / 病的バリアント / 希少疾患 / 病態解明 / 遺伝学的解析 / 相分離 / プロテオーム解析 / MN1 / ゲノム解析 / 遺伝子解析 / 遺伝要因 / 稀少難治性疾患 / オミックス解析 / 新規遺伝子候補 / 発症病態解明 / 機能解析 / 全エクソームシークンス / 小児科学 / ゲノム医科学 / ロングリードシークエンス / 体細胞変異検出 / 全エクソームシークエンス / ターゲットシークエンス / 体細胞変異 / 肺リンパ脈管筋腫症 / TSC2 / 低頻度体細胞モザイク / NUP107 / ステロイド抵抗性ネフローゼ症候群 / エクソーム解析 / 単一遺伝性疾患 / 小児科 / 先天奇形学 / 先天異常学 / 遺伝 / 皮膚 / 変異解析 / 先天性結合織疾患 / エーラス・ダンロス症候群 … More Except Principal Investigator デルマタン硫酸 / プロテオグリカン / コンドロイチン硫酸 / 結合組織疾患 / 次世代シーケンス / グリコサミノグリカン / 遺伝子変異 / ゲノム / 包括的病態解析 / iPS細胞 / マウスモデル / 筋拘縮型エーラス・ダンロス症候群 / 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 / エーラス・ダンロス症候群 / GORAB / Golgin / 糖尿病 / てんかん / 老化 / 骨・皮膚疾患 / ヘパラン硫酸 / アルツハイマー病 / 癌 / RAGE / 国際情報交換 / 全エクソーム解析 / 候補遺伝子解析 / 新規病型 / エーラスダンロス症候群 / 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 / 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 / 高速シーケンス / 領域選択技術 / 分子遺伝学 Less

希少遺伝子疾患の新規遺伝子同定と治療戦略を見据えた病態解析Principal Investigator
- Principal Investigator
  
  三宅紀子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center for Global Health and Medicine
Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome
- Principal Investigator
  
  Kosho Tomoki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Gene identification of rare genetic diseases by Multi-Omics analysisPrincipal Investigator
- Principal Investigator
  
  Miyake Noriko
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center for Global Health and Medicine
  Yokohama City University
Multidirectional approach for human rare diseases using massive parallel sequencingPrincipal Investigator
- Principal Investigator
  
  Miyake Noriko
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- 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
Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseasesPrincipal Investigator
- Principal Investigator
  
  MIYAKE Noriko
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City 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
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
Genome assay using massive parallel sequencing
- 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
Identification of novel disease genes utilizing next generation sequencerPrincipal Investigator
- Principal Investigator
  
  MIYAKE Noriko
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- 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
Development of genome-partitioning technologies for next generation sequencing
- 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
Disease gene identification of a new type of Ehlers-Danlos syndromePrincipal Investigator
- 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

[Book] Progress in Heritable Soft Connective Tissue Diseases2021
- Author(s)
  Miyake N, Kosho T, Matsumoto N
- Total Pages
  15
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-19H03621
[Book] Adv Exp Med Biol.2014
- Author(s)
  Miyake N, Kosho T, Matsumoto N.
- Total Pages
  15
- Publisher
  Ｓｐｒｉｎｇｅｒ
- Data Source
  KAKENHI-PROJECT-25293235
[Book] 神経症候群2014
- Author(s)
  今川英里, 三宅紀子, 松本直通
- Total Pages
  4
- Publisher
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-25293235
[Book] 整形・災害外科2014
- Author(s)
  三宅紀子、松本直通
- Total Pages
  8
- Publisher
  金原出版株式会社
- Data Source
  KAKENHI-PROJECT-25293235
[Journal Article] Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt2024
- Author(s)
  Shepherdson James L.、Hutchison Katie、Don Dilan Wellalage、others、Matsumoto Naomichi、McCarrier Julie、McCarthy Josephine、Miyake Noriko、Moey Lip Hen、others, Shinawi Marwan
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 111 Issue: 3 Pages: 487-508
- DOI
  10.1016/j.ajhg.2024.01.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Journal Article] Craniosynostosis in molecularly diagnosed <scp>Kabuki</scp> syndrome: Prevalence and clinical implications2023
- Author(s)
 Nishi Eriko、Miyake Noriko、Kawamura Rie、Hosoki Kana、Hasegawa Yuiko、Matsumoto Naomichi、Okamoto Nobuhiko
- Journal Title
 
 American Journal of Medical Genetics Part A
 
 Volume: 194 Issue: 2 Pages: 268-278
- DOI
 10.1002/ajmg.a.63424
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23K24308
[Journal Article] Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans2023
- Author(s)
  Guo Long、Salian Smrithi、Xue Jing-yi、Rath Nicola、Rousseau Justine、Kim Hyunyun、Ehresmann Sophie、Moosa Shahida、Nakagawa Norio、Kuroda Hiroshi、others、Miyake Noriko、Matsumoto Naomichi、others、Ikegawa Shiro、Campeau Philippe M.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 110 Issue: 7 Pages: 1068-1085
- DOI
  10.1016/j.ajhg.2023.06.001
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Journal Article] Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants2023
- Author(s)
  Inoue Yuta、Tsuchida Naomi、Okamoto Nobuhiko、Shuichi Shimakawa、Ohashi Kei、Saitoh Shinji、Ogawa Atsushi、Hamada Keisuke、Sakamoto Masamune、Miyake Noriko、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 103 Issue: 5 Pages: 590-595
- DOI
  10.1111/cge.14292
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Human phenotype caused by biallelic KDM4B frameshift variant2023
- Author(s)
  Takada Sanami、Silva Sebastian、Zamorano Ivonne、Perez Andrea、Iwabuchi Chisato、Miyake Noriko
- Journal Title
  
  Clinical Genetics
  
  Volume: 105 Issue: 1 Pages: 72-76
- DOI
  10.1111/cge.14409
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K20905, KAKENHI-PROJECT-23K24308
[Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder2023
- Author(s)
  Miyake Noriko、Tsurusaki Yoshinori、Fukai Ryoko、Kushima Itaru...Takata Atsushi、Mizuguchi Takeshi、Ozaki Norio、Matsumoto Naomichi
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27-Mar Issue: 12 Pages: 1-8
- DOI
  10.1038/s41431-023-01335-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K16625, KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-19K17061, KAKENHI-PLANNED-20H05777
[Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions2023
- Author(s)
  Atsushi Fujita et al.
- Journal Title
  
  Acta Neuropathologica Communications
  
  Volume: 11 Issue: 1 Pages: 33-33
- DOI
  10.1186/s40478-023-01532-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K08236
[Journal Article] A novel NONO variant that causes developmental delay and cardiac phenotypes2023
- Author(s)
  Itai T、Sugie A、Nitta Y、Maki R、Suzuki T、Shinkai Y、Watanabe Y、Nakano Y、Ichikawa K、Okamoto N、Utsuno Y、Koshimizu E、Fujita A、Hamanaka K、Uchiyama Y、Tsuchida N、Miyake N、Misawa K、Mizuguchi T、Miyatake S、Matsumoto N
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 975-975
- DOI
  10.1038/s41598-023-27770-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K06569, KAKENHI-PROJECT-21K15619, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-21H02837
[Journal Article] Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant2023
- Author(s)
 Kawaguchi Tatsuya、Okanishi Tohru、Okazaki Tetsuya、Aoki Chisako、Kasagi Noriko、Adachi Kaori、Yoshida Yuichi、Miyake Noriko、Matsumoto Naomichi、Maegaki Yoshihiro
- Journal Title
 
 Yonago Acta Medica
 
 Volume: 66 Issue: 4 Pages: 463-466
- DOI
 10.33160/yam.2023.11.005
- ISSN
 0513-5710, 1346-8049
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23K24308
[Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals2023
- Author(s)
  Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Miyatake S, Lupski JR, Houlden H, Matsumoto N.
- Journal Title
  
  Genet Med
  
  Volume: Jan;25(1) Issue: 1 Pages: 90-102
- DOI
  10.1016/j.gim.2022.09.010
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-ORGANIZER-21H05158
[Journal Article] Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers?Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)2023
- Author(s)
  Kobayashi Tomoko、Fujishima Fumiyoshi、Tokodai Kazuaki、Sato Chiaki、Kamei Takashi、Miyake Noriko、Matsumoto Naomichi、Kosho Tomoki
- Journal Title
  
  Genes
  
  Volume: 14(5) Issue: 5 Pages: 1079-1079
- DOI
  10.3390/genes14051079
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K21501, KAKENHI-PROJECT-23K24308
[Journal Article] De novo heterozygous variants in KIF5B cause kyphomelic dysplasia2022
- Author(s)
 Itai Toshiyuki、Wang Zheng、Nishimura Gen、Ohashi Hirofumi、Guo Long、Wakano Yasuhiro、Sugiura Takahiro、Hayakawa Hiromi、Okada Mayumi、Saisu Takashi、Kitta Ayana、Doi Hiroshi、Kurosawa Kenji、Hotta Yoshihiro、Hosono Katsuhiro、Sato Miho、他
- Journal Title
 
 Clinical Genetics
 
 Volume: 102 Issue: 1 Pages: 3-11
- DOI
 10.1111/cge.14133
- Peer Reviewed / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease?like Vascular Formation Associated With RNF213 p.R4810K Variant2022
- Author(s)
 Ikeuchi Yasuhito、Kitayama Jiro、Sahara Noriyuki、Okata Takuya、Miyake Noriko、Matsumoto Naomichi、Kitazono Takanari、Ago Tetsuro
- Journal Title
 
 Neurology Genetics
 
 Volume: 8 Issue: 5
- DOI
 10.1212/nxg.0000000000200017
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23K24308
[Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.2022
- Author(s)
  Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
- Journal Title
  
  Genome Med
  
  Volume: 14 Issue: 1 Pages: 40-40
- DOI
  10.1186/s13073-022-01042-w
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PLANNED-20H05777
[Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy2022
- Author(s)
  Sakamoto M et al, Saitoh Sは30番目
- Journal Title
  
  Genetics in Medicine
  
  Volume: 24 Issue: 12 Pages: 2453-2463
- DOI
  10.1016/j.gim.2022.08.007
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K21501, KAKENHI-PROJECT-23K24308
[Journal Article] Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants2022
- Author(s)
  Duong Nguyen Thuy、Dinh Tran Huu、M?hl Britta S.、Hintze Stefan、Quynh Do Hai、Ha Duong Thi Thu、Ngoc Ngo Diem、Dung Vu Chi、Miyake Noriko、Hai Nong Van、Matsumoto Naomichi、Meinke Peter
- Journal Title
  
  Aging
  
  Volume: 14 Issue: 13 Pages: 5299-5310
- DOI
  10.18632/aging.204139
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Journal Article] Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes2022
- Author(s)
  Kimura H, Okada T, Sebat J, et al.
- Journal Title
  
  Translational Psychiatry
  
  Volume: 12 Issue: 1 Pages: 265-265
- DOI
  10.1038/s41398-022-02033-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08044, KAKENHI-PROJECT-20K20602, KAKENHI-PROJECT-21H04815, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21H02848, KAKENHI-PROJECT-23K24308, KAKENHI-PLANNED-20H05777
[Journal Article] Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome2022
- Author(s)
  Duong Nguyen Thuy、Anh Nguyen Phuong、Bac Nguyen Duy、Quang Le Bach、Miyake Noriko、Van Hai Nong、Matsumoto Naomichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 21-21
- DOI
  10.1038/s41439-022-00200-1
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Journal Article] A rare homozygous missense mutation of COL7A1 in a Vietnamese family2022
- Author(s)
  Duong Nguyen Thuy、Anh Luong Thi Lan、Sau Nguyen Huu、Anh Nguyen Bao、Miyake Noriko、Van Hai Nong、Matsumoto Naomichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 13-13
- DOI
  10.1038/s41439-022-00192-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Journal Article] Monogenic causes of pigmentary mosaicism2022
- Author(s)
  Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 11 Pages: 1771-1784
- DOI
  10.1007/s00439-022-02437-w
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Polymicrogyria in a child with KCNMA1-related channelopathy2022
- Author(s)
  Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B.
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 2 Pages: 173-177
- DOI
  10.1016/j.braindev.2021.09.009
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K07907
[Journal Article] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome2022
- Author(s)
  Miyatake S, Yoshida K, Koshimizu E, others, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N.
- Journal Title
  
  Brain
  
  Volume: 145 Issue: 3 Pages: 1139-1150
- DOI
  10.1093/brain/awab363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K24308
[Journal Article] Distal 2q duplication in a patient with intellectual disability2022
- Author(s)
  Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: Nov 10;9(1) Issue: 1 Pages: 39-39
- DOI
  10.1038/s41439-022-00215-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing2021
- Author(s)
  Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: 113 Issue: 1 Pages: 1044-1053
- DOI
  10.1016/j.ygeno.2020.10.038
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities2021
- Author(s)
  Miyake Noriko、Kosho Tomoki、Matsumoto Naomichi
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 1348 Pages: 235-249
- DOI
  10.1007/978-3-030-80614-9_10
- ISBN
  9783030806132, 9783030806149
- Data Source
  KAKENHI-PROJECT-19H03616
[Journal Article] A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor2021
- Author(s)
  Haginoya Kazuhiro、Sekiguchi Futoshi、Munakata Mitsutoshi、Yokoyama Hiroyuki、Hino-Fukuyo Naomi、Uematsu Mitsugu、Jin Kazutaka、Nagamatsu Kenichi、Ando Tadashi、Miyake Noriko、Matsumoto Naomichi、Kure Shigeo
- Journal Title
  
  Epilepsy & Behavior Reports
  
  Volume: 15 Pages: 100405-100405
- DOI
  10.1016/j.ebr.2020.100405
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08250, KAKENHI-PROJECT-19H03621
[Journal Article] COG1‐congenital disorders of glycosylation: Milder presentation and review2021
- Author(s)
  Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N
- Journal Title
  
  Clinical Genetics
  
  Volume: 100 Issue: 3 Pages: 318-323
- DOI
  10.1111/cge.13980
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings2021
- Author(s)
  Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S
- Journal Title
  
  J Autism Dev Disord
  
  Volume: なし Issue: 12 Pages: 4655-4662
- DOI
  10.1007/s10803-021-04910-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K08258
[Journal Article] Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype2021
- Author(s)
  Hasegawa Y, Nishi E, Mishima Y, Sakaguchi T, Sekiguchi F, Miyake N, Kojima K, Osaka H, Matsumoto N, Okamoto N.
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 10 Pages: 1023-1028
- DOI
  10.1016/j.braindev.2021.07.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy2021
- Author(s)
  Saida Ken et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 100 Issue: 6 Pages: 722-730
- DOI
  10.1111/cge.14066
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-21H05158, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21J11172, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate2021
- Author(s)
  Sawada D, Naito S, Aoyama H, Shiohama T, Ichikawa T, Imagawa E, Miyake N, Matsumoto N, Fujii K.
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 7 Pages: 798-803
- DOI
  10.1016/j.braindev.2021.03.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion2021
- Author(s)
  Miyake N, de Oliveira Stephan B, Kim CA, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 99 Issue: 4 Pages: 607-608
- DOI
  10.1111/cge.13909
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment.2021
- Author(s)
  Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
- Journal Title
  
  Brain
  
  Volume: 144 Issue: 4 Pages: 1103-1117
- DOI
  10.1093/brain/awab021
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07970, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K15704
[Journal Article] Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K72021
- Author(s)
  Minatogawa M, Miyake N, Tsukahara Y, Tanabe Y, Uchiyama T, Matsumoto N, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 188 Issue: 1 Pages: 350-356
- DOI
  10.1002/ajmg.a.62516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 22021
- Author(s)
  Faundes V, Goh S, Akilapa R, Bezuidenhout H, others, Miyake N, Benoit V, Lederer D, Banka S.
- Journal Title
  
  Genetics in Medicine
  
  Volume: 23 Issue: 7 Pages: 1202-1210
- DOI
  10.1038/s41436-021-01119-8
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Clinical and molecular features of 66 patients with musculocontractural Ehlers?Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021
- Author(s)
 Minatogawa Mari、... 、Miyake Noriko、Kosho Tomoki
- Journal Title
 
 Journal of Medical Genetics
 
 Volume: Epub ahead of print Issue: 9 Pages: 107623-107623
- DOI
 10.1136/jmedgenet-2020-107623
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-19K08535, KAKENHI-PROJECT-23K21501
[Journal Article] Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome2021
- Author(s)
  Hagiwara Hidetoshi、Matsumoto Hiroshi、Uematsu Kenji、Zaha Kiyotaka、Sekinaka Yujin、Miyake Noriko、Matsumoto Naomichi、Nonoyama Shigeaki
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 2 Pages: 337-342
- DOI
  10.1016/j.braindev.2020.09.007
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-19K08289
[Journal Article] A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face2021
- Author(s)
  Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 101 Issue: 3 Pages: 359-363
- DOI
  10.1111/cge.14097
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Valine metabolites analysis in ECHS1 deficiency2021
- Author(s)
  Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K.
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 29 Pages: 100809-100809
- DOI
  10.1016/j.ymgmr.2021.100809
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K07807, KAKENHI-PROJECT-20H03648
[Journal Article] SLC4A2 Deficiency Causes a New Type of Osteopetrosis2021
- Author(s)
  Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L.
- Journal Title
  
  Journal of Bone and Mineral Research
  
  Volume: 37 Issue: 2 Pages: 226-235
- DOI
  10.1002/jbmr.4462
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis2021
- Author(s)
  Xue Jing-Yi、Simsek-Kiper Pelin O.、Utine Gulen Eda、Yan Li、Wang Zheng、Taskiran Ekim Z.、Karaosmanoglu Beren、Imren Gozde、Gocmen Rahsan、Nishimura Gen、Matsumoto Naomichi、Miyake Noriko、Ikegawa Shiro、Guo Long
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 6 Pages: 607-611
- DOI
  10.1038/s10038-020-00891-w
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02932, KAKENHI-PROJECT-19H03621
[Journal Article] De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality2021
- Author(s)
 Sakamoto M、Sasaki K、Sugie A、Nitta Y、Kimura T、G?rsoy S、Cinleti T、Iai M、Sengoku T、Ogata K、Suzuki A、Okamoto N、Iwama K、Tsuchida N、Uchiyama Y、Koshimizu E、Fujita A、Hamanaka K、Miyatake S、Mizuguchi T、Taguri M、Ito S、Takahashi H、Miyake N、Matsumoto N
- Journal Title
 
 Human Molecular Genetics
 
 Volume: 31 Issue: 1 Pages: 69-81
- DOI
 10.1093/hmg/ddab224
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-18K14835, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K15619, KAKENHI-ORGANIZER-21H05158
[Journal Article] De novo pathogenic DHX30 variants in two cases2021
- Author(s)
  Miyake N, Kim CA, Haginoya K, Castro MAA, Honjo RS, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 100 Issue: 3 Pages: 350-351
- DOI
  10.1111/cge.14013
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability2021
- Author(s)
  Tan NB, Pagnamenta AT, others, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 59 Issue: 5 Pages: 511-516
- DOI
  10.1136/jmedgenet-2020-107462
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant2021
- Author(s)
  Okazaki T, Yamada H, Matsuura K, Kasagi N, Miyake N, Matsumoto N, Adachi K, Nanba E, Maegaki Y.
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 26-26
- DOI
  10.1038/s41439-021-00157-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621
[Journal Article] Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy2020
- Author(s)
  Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T, Yoshida T, Morita Y, Fujita A, Fukuda H, Miyake N, Mizuguchi T, Saito Y, Sekijima Y, Matsumoto N and Takahashi Y
- Journal Title
  
  Neurol Genet
  
  Volume: 6 Issue: 6
- DOI
  10.1212/nxg.0000000000000531
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621
[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] Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development2020
- Author(s)
  Lennox Ashley L.、Hoye Mariah L.、Jiang Ruiji、Johnson-Kerner Bethany L.、others、Miyake Noriko、Matsumoto Naomichi、Fujita Atsushi、others、Sherr Elliott H.
- Journal Title
  
  Neuron
  
  Volume: 106 Issue: 3 Pages: 404-420.e8
- DOI
  10.1016/j.neuron.2020.01.042
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[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] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy2020
- Author(s)
  Hamanaka Kohei、Imagawa Eri、Koshimizu Eriko、Miyatake Satoko、Tohyama Jun、Yamagata Takanori、Miyauchi Akihiko、Ekhilevitch Nina、Nakamura Fumio、Kawashima Takeshi、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi et al.,
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106(4) Issue: 4 Pages: 549-558
- DOI
  10.1016/j.ajhg.2020.02.011
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03641
[Journal Article] A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction2020
- Author(s)
  Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N and Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 65 Issue: 9 Pages: 751-757
- DOI
  10.1038/s10038-020-0765-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621
[Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020
- Author(s)
  Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
- Journal Title
  
  Human Mutation
  
  Volume: 42 Issue: 1 Pages: 50-65
- DOI
  10.1002/humu.24129
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-18K07865
[Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia2020
- Author(s)
  Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: 7 Issue: 1 Pages: 43-43
- DOI
  10.1038/s41439-020-00131-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K17307, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2020
- Author(s)
  Sakamoto Masamune、Iwama Kazuhiro、Sekiguchi Futoshi、Mashimo Hideaki、Kumada Satoko、Ishigaki Keiko、Okamoto Nobuhiko、Behnam Mahdiyeh、Ghadami Mohsen、Koshimizu Eriko、Miyatake Satoko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Saitsu Hirotomo、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 4 Pages: 401-407
- DOI
  10.1038/s10038-020-00853-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08164
[Journal Article] Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer?Giedion syndrome and Cornelia de Lange syndrome-42020
- Author(s)
  Lei Ming、Liang Desheng、Yang Yifeng、Mitsuhashi Satomi、Katoh Kazutaka、Miyake Noriko、Frith Martin C.、Wu Lingqian、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 8 Pages: 667-674
- DOI
  10.1038/s10038-020-0754-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07464, KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K06767
[Journal Article] The identification of two pathogenic variants in a family with mild and severe forms of developmental delay2020
- Author(s)
  Miyake Noriko、Heydari Shermineh、Garshasbi Masoud、Saitoh Shinji、Nasiri Jafar、Hamanaka Kohei、Takata Atsushi、Matsumoto Naomichi、Beheshti Farnaz Hosseini、Chaleshtori Ahmad Reza Salehi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 4 Pages: 445-448
- DOI
  10.1038/s10038-020-0809-8
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621
[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] 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] Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome2019
- Author(s)
  Tomoki Kosho, Shuji Mizumoto, Takafumi Watanabe, Takahiro Yoshizawa, Noriko Miyake, Shuhei Yamada
- Journal Title
  
  Genes
  
  Volume: 11 Issue: 1 Pages: 43-43
- DOI
  10.3390/genes11010043
- NAID
  120006901092
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07054, KAKENHI-PROJECT-19K08745, KAKENHI-PROJECT-19H03616, KAKENHI-PROJECT-16K19396
[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 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] 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] 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] 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] 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] 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] 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] 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] Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST142019
- Author(s)
  Takuya Hirose, Naoki Takahashi, Prasarn Tangkawattana, Jun Minaguchi, Shuji Mizumoto, Shuhei Yamada, Noriko Miyake, Shujiro Hayashi, Atsushi Hatamochi, Jun Nakayama, Tomomi Yamaguchi, Ayana Hashimoto, Yoshihiro Nomura, Kazushige Takehana, Tomoki Kosho, and Takafumi Watanabe
- Journal Title
  
  Biochimica et Biophysica Acta (BBA) - General Subjects
  
  Volume: 1863 Issue: 3 Pages: 623-631
- DOI
  10.1016/j.bbagen.2018.12.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251
[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] 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] 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] Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency2018
- Author(s)
  Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, and Kazuyuki Sugahara
- Journal Title
  
  Clinical Biochemistry
  
  Volume: 50 Issue: 12 Pages: 670-677
- DOI
  10.1016/j.clinbiochem.2017.02.018
- NAID
  120006398760
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08251, KAKENHI-PROJECT-15K07951
[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] Detection of copy number variations in epilepsy using exome data2018
- Author(s)
  Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Mizuguchi T. et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 3 Pages: 577-587
- DOI
  10.1111/cge.13144
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
[Journal Article] Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.2018
- Author(s)
  Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: - Issue: 9 Pages: 622-628
- DOI
  10.1136/jmedgenet-2018-105920
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10986, KAKENHI-PROJECT-18H02929, KAKENHI-PROJECT-19H03621
[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] 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] 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] De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders2018
- Author(s)
  Akita Tenpei、Aoto Kazushi、Kato Mitsuhiro、Shiina Masaaki、Mutoh Hiroki、Nakashima Mitsuko、Kuki Ichiro、Okazaki Shin、Magara Shinichi、Shiihara Takashi、Yokochi Kenji、Aiba Kaori、Tohyama Jun、Ohba Chihiro、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Fukuda Atsuo、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 5 Issue: 3 Pages: 280-296
- DOI
  10.1002/acn3.528
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-17K19682, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-16H03293
[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] 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] 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 Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder2018
- Author(s)
  Gregor A, Sadleir LG, Asadollahi R, others and Miyake N et al.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 103 Issue: 2 Pages: 305-316
- DOI
  10.1016/j.ajhg.2018.07.003
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] 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] 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] 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] 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] 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] The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.2018
- Author(s)
  Matsumoto, A. Imagawa, E. Miyake, N. Ikeda, T. Kobayashi, M. Goto, M. Matsumoto, N. Yamagata, T. Osaka, H.
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 4 Pages: 325-9
- DOI
  10.1016/j.braindev.2017.09.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K16279, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09995
[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] Novel KCNB1 mutation associated with non-syndromic intellectual disability2017
- Author(s)
  Latypova X, Matsumoto N, Vinceslas-Muller C, Bezieau S, Isidor B, Miyake N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 5 Pages: 569-573
- DOI
  10.1038/jhg.2016.154
- NAID
  40021210392
- Peer Reviewed / Int'l Joint Research
- Data Source
  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] Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations2017
- Author(s)
  Wang Zheng、Horemuzova Eva、Iida Aritoshi、Guo Long、Liu Ying、Matsumoto Naomichi、Nishimura Gen、Nordgren Ann、Miyake Noriko、Tham Emma、Grigelioniene Giedre、Ikegawa Shiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 4 Pages: 503-506
- DOI
  10.1038/jhg.2016.157
- NAID
  40021158326
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16710, KAKENHI-PROJECT-16H05357
[Journal Article] Response to Lefebvre et al.2017
- Author(s)
  Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T, Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.
- Journal Title
  
  Clinical Genetics
  
  Volume: 92 Issue: 5 Pages: 563-564
- DOI
  10.1111/cge.13011
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10986, KAKENHI-PROJECT-16H05357
[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] Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.2017
- Author(s)
  Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T, Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S
- Journal Title
  
  Human Mutation
  
  Volume: 38 Issue: 3 Pages: 317-323
- DOI
  10.1002/humu.23168
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10986, KAKENHI-PROJECT-16H05357
[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] Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations2017
- Author(s)
  Kurahashi Naoko、Miyake Noriko、Mizuno Seiji、Koshimizu Eriko、Kurahashi Hirokazu、Yamada Keitaro、Natsume Jun、Aoki Yusuke、Nakamura Miho、Taniai Hiroko、Maki Yuki、Abe-Hatano Chihiro、Matsumoto Naomichi、Maruyama Koichi
- Journal Title
  
  Brain and Development
  
  Volume: 39 Issue: 8 Pages: 672-677
- DOI
  10.1016/j.braindev.2017.03.025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-16H05357
[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] A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK2017
- Author(s)
  Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
- Journal Title
  
  Clinical Genetics
  
  Volume: 92 Issue: 5 Pages: 554-555
- DOI
  10.1111/cge.13023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357
[Journal Article] Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies2017
- Author(s)
  Hammarsjo A.、Wang Z.、（以下24名）
- Journal Title
  
  Scientific Reports
  
  Volume: 7 Issue: 1 Pages: 15585-15585
- DOI
  10.1038/s41598-017-15442-1
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16710, KAKENHI-PROJECT-16H05357
[Journal Article] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.2017
- Author(s)
  Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: - Issue: 2 Pages: 180-187
- DOI
  10.1111/cge.12991
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-16K09665, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357
[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 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] A case of severe movement disorder with GNAO1 mutation responsive to topiramate2017
- Author(s)
  Sakamoto Saori、Monden Yukifumi、Fukai Ryoko、Miyake Noriko、Saito Hiroshi、Miyauchi Akihiko、Matsumoto Ayumi、Nagashima Masako、Osaka Hitoshi、Matsumoto Naomichi、Yamagata Takanori
- Journal Title
  
  Brain and Development
  
  Volume: 39 Issue: 5 Pages: 439-443
- DOI
  10.1016/j.braindev.2016.11.009
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy2017
- Author(s)
  Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 2 Pages: 266-274
- DOI
  10.1111/cge.13061
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
[Journal Article] Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 22017
- Author(s)
  Sugiyama M、Iguchi A、Yamada M、Terashita Y、Ohshima J、Cho Y、Miyake N、Matsumoto N、Ueki M、Yamazaki Y、Takezaki S、Kobayashi I、Ariga T
- Journal Title
  
  Bone Marrow Transplantation
  
  Volume: 52 Issue: 12 Pages: 1678-1680
- DOI
  10.1038/bmt.2017.189
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.2016
- Author(s)
  Culic V, Miyake N, Jankovic; S, Petrovic D, Simunovic M et al.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 13 Pages: 16035-16035
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] 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] 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] Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay2016
- Author(s)
  Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 24 Issue: 1 Pages: 129
- DOI
  10.1038/ejhg.2015.92
- URL
  https://pure.teikyo.jp/en/publications/06a45aed-f2e5-424a-b8d1-3e9a6923fdc5
- Language
  English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25461539, KAKENHI-PROJECT-26860781, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations2016
- Author(s)
  Zheng Wang , Aritoshi Iida , Noriko Miyake , Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene
- Journal Title
  
  PloS ONE
  
  Volume: 11 Issue: 3 Pages: e0150555-e0150555
- DOI
  10.1371/journal.pone.0150555
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26893018, KAKENHI-PROJECT-25293235
[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] Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.2016
- Author(s)
  Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170(3) Issue: 3 Pages: 717-724
- DOI
  10.1002/ajmg.a.37478
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235
[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] 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] Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.2016
- Author(s)
  Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 2 Pages: 460-465
- DOI
  10.1002/ajmg.a.37426
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293235
[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] A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-O-sulfotransferase-1 deficiency: implications of dermatan sulfate depletion on early aging.2016
- Author(s)
  Kono M, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y, Kosho T, Akiyama M.
- Journal Title
  
  Acta Derm Venereol.
  
  Volume: - Pages: 1-2
- DOI
  10.2340/00015555-2390
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24591646, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25461675, 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] 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] 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] 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] 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] Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.2015
- Author(s)
  Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F.
- Journal Title
  
  Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
  
  Volume: 60 Issue: 7 Pages: 381-385
- DOI
  10.1038/jhg.2015.35
- NAID
  40020536447
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25293235
[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] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation2015
- Author(s)
  17.Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
- Journal Title
  
  Clin Genet
  
  Volume: 87 Issue: 5 Pages: 455-460
- DOI
  10.1111/cge.12417
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26460878, KAKENHI-PROJECT-26860816
[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] 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] 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] Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.2015
- Author(s)
  Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 89(1) Issue: 1 Pages: 115-119
- DOI
  10.1111/cge.12586
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235
[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] De novo KCNT1 mutations in early-onset epileptic encephalopathy.2015
- Author(s)
  Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 56(9) Issue: 9
- DOI
  10.1111/epi.13072
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-26860832, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.2015
- Author(s)
  Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 60 Issue: 12 Pages: 739-42
- DOI
  10.1038/jhg.2015.108
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25860854, KAKENHI-PROJECT-25293235
[Journal Article] Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.2015
- 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 Pages: 519-519
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25293235
[Journal Article] Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.2014
- Author(s)
  Kosho T, Miyake N, Carey JC.
- Journal Title
  
  Am J Med Genet C Semin Med Genet.
  
  Volume: 166C Issue: 3 Pages: 241-51
- DOI
  10.1002/ajmg.c.31415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25460405
[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] Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.2014
- Author(s)
  Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 12 Pages: 687-690
- DOI
  10.1038/jhg.2014.91
- NAID
  40020308684
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmentaldelay.2014
- Author(s)
  Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 4 Pages: 1021-8
- DOI
  10.1002/ajmg.a.36377
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A novel homozygous YARS2 mutation causessevere myopathy, lactic acidosis, and sideroblastic anemia 2.2014
- Author(s)
  Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H,Kawashima H, Matsumoto N, Miyake N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 4 Pages: 229-32
- DOI
  10.1038/jhg.2013.143
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[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] 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 novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.2014
- Author(s)
  Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 4 Pages: 998-1002
- DOI
  10.1002/ajmg.a.36369
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[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] 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] 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] ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing.2014
- Author(s)
  Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 10 Pages: 589-590
- DOI
  10.1038/jhg.2014.75
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[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] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.2014
- Author(s)
  Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitus H, Arai H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 12 Pages: 691-3
- DOI
  10.1038/jhg.2014.95
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24592173, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26462217
[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] 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] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014
- Author(s)
  Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 2 Pages: 13-17
- DOI
  10.1111/epi.12508
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816
[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] Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.2014
- Author(s)
  Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H,Ikegawa S, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 9 Pages: 2398-402
- DOI
  10.1002/ajmg.a.36648
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[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] A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.2014
- Author(s)
  Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59 Issue: 10 Pages: 581-3
- DOI
  10.1038/jhg.2014.71
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.2014
- Author(s)
  Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, Unger S.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 9 Pages: 2147-52
- DOI
  10.1002/ajmg.a.36632
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293235
[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] Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series.2014
- Author(s)
  Yasuda Y, Hashimoto R, Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N, Takeda M.
- Journal Title
  
  Ann Gen Psychiatry.
  
  Volume: 13 Issue: 1 Pages: 22-26
- DOI
  10.1186/s12991-014-0022-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24659497, KAKENHI-PUBLICLY-25129704, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25293250, KAKENHI-PROJECT-25461545, KAKENHI-PROJECT-25461730, KAKENHI-PROJECT-25861002, KAKENHI-PROJECT-26670541
[Journal Article] Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.2014
- Author(s)
  Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 12 Pages: 649-54
- DOI
  10.1038/jhg.2014.88
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[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] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.2013
- Author(s)
  Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
- Journal Title
  
  Intern Med.
  
  Volume: 52 Pages: 1629-1633
- NAID
  130003365707
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25293235
[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] 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] 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] 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] The diagnostic utility of exome sequencing in Joubert syndrome related disorders2013
- Author(s)
  Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
- Journal Title
  
  J Hum Genet
  
  Volume: 58(2):113-115 Issue: 2 Pages: 113-115
- DOI
  10.1038/jhg.2012.117
- NAID
  10031156434
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25461637
[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] 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] 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] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients2012
- Author(s)
  Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: (in press) Issue: 2 Pages: 135-144
- DOI
  10.1111/j.1399-0004.2012.01885.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24791844
[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] A novel SACS mutation in a Japanese family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)2012
- Author(s)
  Miyatake S, Miyake N, Doi H, Ogata K, Kawai M, Matsumoto N
- Journal Title
  
  Intern Med
  
  Volume: 51: 2221-2226
- URL
  https://www.jstage.jst.go.jp/article/internalmedicine/51/16/51_51.7374/_article
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[Journal Article] Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome.2012
- Author(s)
  Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
- Journal Title
  
  Ann Neurol
  
  Volume: 72(2): 298-300
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[Journal Article] Homozygous c. 14576G> A Variant of RNF213 Predicts Early-Onset and Severe Form of Moyamoya Disease2012
- Author(s)
 Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
- Journal Title
 
 Neurology
 
 Volume: 78(11) Issue: 11 Pages: 803-10
- DOI
 10.1212/wnl.0b013e318249f71f
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21591117, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534, KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24240042, KAKENHI-PROJECT-24659486, KAKENHI-ORGANIZER-24118001
[Journal Article] PAPSS2 mutations cause autosomal recessive brachyolmia2012
- Author(s)
 Miyake N^<#>, Elcioglu NH^<#> (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
- Journal Title
 
 J Med Genet
 
 Volume: 49(8): 533-538 Issue: 8 Pages: 533-538
- DOI
 10.1136/jmedgenet-2012-101039
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, 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
  
  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 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] Rapid detection of a mutation causing X-linked leucoencephalopathy 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巻 Issue: 9 Pages: 606-609
- DOI
  10.1136/jmg.2010.083535
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
[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] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation2011
- Author(s)
  Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Issue: 2 Pages: 320-327
- DOI
  10.1016/j.ajhg.2011.07.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591021, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
[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] Two novel CHN1 mutations in 2 families with Duane retraction syndrome2011
- Author(s)
 Chan WM^<#>, Miyake N^<#> (# denotes equal contribution), Zhu-Tam L, Andrews C, Engle EC
- Journal Title
 
 Arch Ophthalmol
 
 Volume: 129(5):649-52 Issue: 5 Pages: 649-649
- DOI
 10.1001/archophthalmol.2011.84
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23689052
[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] 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 GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(11):2885-2896 Issue: 11 Pages: 2885-2896
- DOI
  10.1002/ajmg.a.34299
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant2011
- Author(s)
  Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 80巻 Issue: 3 Pages: 293-296
- DOI
  10.1111/j.1399-0004.2011.01644.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
[Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia2011
- Author(s)
  Dai J, Kim OH, Cho TJ, Miyake N, Song HR, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, Ikegawa S
- Journal Title
  
  J Hum Genet
  
  Volume: 56(5):398-400 Issue: 5 Pages: 398-400
- DOI
  10.1038/jhg.2011.28
- NAID
  10030659461
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[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] 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] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.2011
- Author(s)
  Saitsu H. et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 89 Issue: 5 Pages: 644-651
- DOI
  10.1016/j.ajhg.2011.10.003
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PUBLICLY-23112718, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-23687025, KAKENHI-PROJECT-23689052
[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 Synd2011
- Author(s)
  Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N
- Journal Title
  
  Hum Mutat
  
  Volume: 32(12):1507-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[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, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 155A(8):1949-1958
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[Journal Article] Expansion of the CHN1 strabismus phenotype2011
- Author(s)
  Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC
- Journal Title
  
  Invest Ophthalmol Vis Sci
  
  Volume: 52(9):6321-6328 Issue: 9 Pages: 6321-6321
- DOI
  10.1167/iovs.11-7950
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[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] 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] 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] A novel homozygous mutation of DARS2 may cause a severe LBSL variant.2010
- Author(s)
  Miyake N, et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: (印刷中)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.2010
- Author(s)
  Miyake N, et al.
- Journal Title
  
  American Journal of Human Genetics A
  
  Volume: 152 Pages: 215-217
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[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] A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Congenital Multiple Contractures, and Progressive Joint and Skin Laxity and Multisystem Fragilityrelated Manifestations2010
- Author(s)
  Kosho T, Miyake N, et al.
- Journal Title
  
  American Journal of Human Genetics A
  
  Volume: 152 Pages: 1333-1346
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[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] 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] CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.2010
- Author(s)
  Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC.
- Journal Title
  
  American Journal of Human Genetics A 152
  
  Pages: 215-217
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[Journal Article] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.2010
- Author(s)
  Miyake N, et al.
- Journal Title
  
  Human Mutation
  
  Volume: 31 Pages: 966-974
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790341
[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] 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] 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] 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] 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] 重度の小児期早期発症神経変性脳症又はその保因者の検出方法2016
- 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
- Industrial Property Number
  2016-180356
- Filing Date
  2016-09-15
- Data Source
  KAKENHI-PROJECT-16H05357
[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
- Industrial Property Number
  2013-552406
- Filing Date
  2014-07-14
- Data Source
  KAKENHI-PROJECT-25293235
[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] ミトコンドリア複合体ＩＩＩ欠乏症患者または保因者の検出方法2014
- 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
  2014-02-07
- Data Source
  KAKENHI-PROJECT-25293235
[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] 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] 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
  松本直通・三宅紀子
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-157339
- Filing Date
  2013-07-31
- Data Source
  KAKENHI-PROJECT-25293235
[Patent] コフイ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
  公立大学法人横浜市立大学
- Industrial Property Number
  2012-000136
- Filing Date
  2012-01-04
- Data Source
  KAKENHI-PROJECT-23689052
[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
- Industrial Property Number
  2012-180356
- Filing Date
  2012-08-16
- Data Source
  KAKENHI-PROJECT-23689052
[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
  松本直通／鶴崎美徳／三宅紀子
- Industrial Property Rights Type
  特許
- Filing Date
  2012-12-20
- Data Source
  KAKENHI-PROJECT-23689052
[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] 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
  横浜市立大学
- Filing Date
  2012-08-16
- Data Source
  KAKENHI-PROJECT-23689052
[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
- Filing Date
  2012-01-04
- Data Source
  KAKENHI-PROJECT-23689052
[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] 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
[Presentation] Genotype-phenotype correlation in human monogenic diseases2023
- Author(s)
  Noriko Miyake
- Organizer
  JSUOG Fetal Ultrasound Advanced Training Course
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] ゲノム解析最前線：ここまで診断できる小児神経疾患2023
- Author(s)
  三宅紀子
- Organizer
  第 65 回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] 希少単一遺伝子疾患の疾患遺伝子同定と病態解明2023
- Author(s)
  三宅紀子
- Organizer
  第217回日本小児科学会長崎地方会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] Unrevealing the pathomechanism of human monogenic diseases2022
- Author(s)
  Noriko Miyake
- Organizer
  第45回日本分子生物学会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] 単一遺伝子疾患の分子生物学的理解2022
- Author(s)
  三宅紀子
- Organizer
  日本人類遺伝学会第67 回大会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] ゲノム解析で見えてきた神経疾患の成り立ち2022
- Author(s)
  三宅紀子
- Organizer
  第64回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] Gene identification for Human Mendelian diseases2022
- Author(s)
  Noriko Miyake
- Organizer
  Academic seminar of foreign experts
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] 転写制御とヒト単一遺伝子疾患2022
- Author(s)
  三宅紀子
- Organizer
  第45回日本分子生物学会
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] 先天性疾患のゲノム解析2022
- Author(s)
  三宅紀子
- Organizer
  New Insights of Molecular Genetics on Growth Disorders 2022
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] 分子遺伝学から迫る整形外科領域疾患の理解2022
- Author(s)
  三宅紀子
- Organizer
  BioSpine Japan The 3rd Meeting
- Invited
- Data Source
  KAKENHI-PROJECT-23K24308
[Presentation] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2021
- Author(s)
  Noriko Miyake
- Organizer
  American Society of Human Genetics
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[Presentation] 転写活性化因子MN1の機能獲得型変異によるヒト疾患の病態解明2021
- Author(s)
  三宅紀子
- Organizer
  第44回日本分子生物学会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03621
[Presentation] Identification of a novel gene for a newly recognizable syndrome and understanding its pathomechanism2020
- Author(s)
  三宅紀子
- Organizer
  第65回日本人類遺伝学会、JSHG-APSHG Joint Symposium
- Invited
- Data Source
  KAKENHI-PROJECT-19H03621
[Presentation] 稀少疾患の遺伝子同定と発症メカニズムの解明2020
- Author(s)
  三宅紀子
- Organizer
  第43回日本小児遺伝学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03621
[Presentation] 染色体異常の診断・解釈に関する課題とその対応2019
- Author(s)
  三宅紀子
- Organizer
  日本人類遺伝学会第64回大会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03621
[Presentation] 稀少難治性疾患における遺伝子解析の現状と展望2019
- Author(s)
  三宅紀子
- Organizer
  日本小児遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Genetic analysis for Mendelian disorders with new technologies2019
- Author(s)
  Noriko Miyake
- Organizer
  the Genomic Medicine 2019
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621
[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] 遺伝性疾患におけるゲノム解析の展望2018
- Author(s)
  三宅紀子
- Organizer
  日本人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] A Japanese patient with a novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation2018
- Author(s)
  Noriko Miyake, Shiro Ozasa, Hiroyo Mabe, Shigemi Kimura, Naomichi Matsumoto
- Organizer
  American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency2018
- Author(s)
  Tomoki Kosho, Takuya Hirose, Naoki Takahashi, Prasarn Tangkawattana, Jun Minaguchi, Shuji Mizumoto Shuhei Yamada; Noriko Miyake, Atsushi Hatamochi, Jun Nakayama, Tomomi Yamaguchi, Kazushige Takehana
- Organizer
  American Society of Human Genetics (ASHG) 2018, San Diego, USA, 10/19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[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] Genetic analysis of 18 Japanese families clinically diagnosed with Musculocontractural type Ehlers-Danlos syndrome2018
- Author(s)
  Noriko Miyake, Tomoki Kosho, Naomichi Matsumoto
- Organizer
  International symposium on the Ehlers-Danlos syndromes
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] 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] Musculocontractural Ehlers-Danlos syndrome caused by a CHST14 deficiency results in defect in urinary dermatan sulfate2018
- Author(s)
  Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Kazuyuki Sugahara, Shuhei Yamada
- Organizer
  The International Symposium on the Ehlers-Danlos Syndromes (EDS2018),Ghent, Belgium, 9/27
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[Presentation] Biallelic TBCD mutations cause early childhood-onset neurodegenerative encephalopathy2017
- Author(s)
  Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
- Organizer
  The 12th International Workshop on Advanced Genomics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Ehlers-Danlos syndrome caused by mutations in CHST14/D4ST1 results in defect of urinary dermatan sulfate2017
- Author(s)
  Shuji Mizumoto, ◯Shuhei Yamada, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, and Kazuyuki Sugahara
- Organizer
  7 Lakes Proteoglycans Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08251
[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] Clinical features and the pathomechanism of early childhood-onset neurodegenerative encephalopathy arising from biallelic TBCD mutations2017
- Author(s)
  Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
- Organizer
  American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] TBCD mutations cause autosomal recessive inherited early childhood-onset neurodegenerative encephalopathy.2017
- Author(s)
  Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
- Organizer
  European Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Early childhood-onset neurodegenerative encephalopathy caused by biallelic TBCD mutations2017
- Author(s)
  Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-16H05357
[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] 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] 両アレル性NUP107変異は早期小児期発症ステロイド抵抗性ネフローゼ症候群を引き起こす2016
- Author(s)
  三宅紀子、塚口裕康、輿水江里子、庄野朱美、松本直通
- Organizer
  第119回　日本小児科学会学術集会
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] NUP107 mutations cause autosomal recessive inherited early childhood-onset steroid resistant Nephrotic syndrome2016
- Author(s)
  N Miyake, H Tsukaguchi, E Koshimizu, A Shono, N Matsumoto
- Organizer
  The European Human Genetics Conference 2016
- Place of Presentation
  Barcelona, Spain
- Year and Date
  2016-05-21
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Biallelic NUP107 mutations cause early childhood-onset steroid resistant Nephrotic syndrome2016
- Author(s)
  Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu et al.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館、京都
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Biallelic NUP107 mutations in early childhood-onset steroid resistant nephrotic syndrome2016
- Author(s)
  N Miyake, H Tsukaguchi, E Koshimizu, A Shono, N Matsumoto
- Organizer
  American Society of Human Genetics　2016　Ａｎｎｕａｌ　ｍｅｅting
- Place of Presentation
  Vancouver, Canada
- Year and Date
  2016-10-16
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] 小児循環器疾患における遺伝子解析の現状と問題点2016
- Author(s)
  三宅紀子
- Organizer
  第52回日本小児循環器学会
- Place of Presentation
  東京ドームホテル、東京
- Year and Date
  2016-07-06
- Invited
- Data Source
  KAKENHI-PROJECT-16H05357
[Presentation] Clinical and genetic analysis of Wiedemann Steiner syndrome caused by KMT2A mutations2015
- Author(s)
  Noriko Miyake, Yoshinori Tsurusaki, Eriko Koshimizu, Nobuhiko Okamoto, Tomoki Kosho, Natasha Jane Brown, Tiong Yang Tan, Patrick Jia Jiunn Yap, Hiroshi Suzumura, Toju Tanaka, Toshiro Nagai, Norio Niikawa, Naomichi Matsumoto
- Organizer
  The 11th International Workshop on Advanced Genomics
- Place of Presentation
  一橋大学　一橋講堂、東京
- Year and Date
  2015-05-20
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] Wiedemann-Steiner症候群における新規KMT2A変異と臨床症状の検討2015
- Author(s)
  三宅紀子, 鶴﨑美徳, 輿水江里子,新川詔夫, 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
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] デルマタン4-O-硫酸基転移酵素1（D4ST1）欠損に基づくエーラスダンロス症候群（DDEDS）の国際共同臨床調査2015
- Author(s)
  古庄知己、森崎裕子、川目裕、園田徹、石川健、小林朋子、青木洋子、大浦敏博、河野通浩、持田耕介、森崎隆幸、三宅紀子
- 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
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] Clinical and genetic analysis of Wiedemann Steiner syndrome caused by KMT2A mutations2015
- Author(s)
  Noriko Miyake, Yoshinori Tsurusaki, Eriko Koshimizu, Norio Niikawa, Naomichi Matsumoto
- Organizer
  American Society of Human Genetics 65th Annual Meeting
- Place of Presentation
  Baltimore Convention Center, Baltimore, MD, USA
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] Natural history of dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS): from an international collaborative clinical study by the International Consortium for EDS.2015
- Author(s)
  Kosho T, Syx D, Van Damme T, Morisaki H, Kawame H, Sonoda T, Hilhorst-Hofstee Y, Maugeri A, Voermans N, Mendoza-Londono R, Wierenga K, Jayakar P, Ishikawa K, Kobayashi T, Aoki Y, Watanabe S, Ohura T, Kono M, Mochida K, Morisaki T, Miyake N, Malfait F.
- Organizer
  American Society of Human Genetics 65nd Annual Meeting, Baltimore
- Place of Presentation
  Baltimore Convention Center（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25460405
[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] メンデル遺伝性疾患における遺伝学的解析の現状と課題。2014
- Author(s)
  三宅紀子
- Organizer
  第37回日本母体胎児医学会学術集会
- Place of Presentation
  ハウステンボス　（長崎県佐世保市）
- Year and Date
  2014-11-07
- Invited
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] A homozygous UQCRC2 mutation cause a neonatal onset metabolic decompensation due to complex III deficiency2013
- Author(s)
  Miyake N, Yano S, Goto Y, Matsumoto N
- Organizer
  The 63th Annual Meeting of American Society of Human Genetics
- Place of Presentation
  Boston, USA
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] NGS application for rare congenital diseases2013
- Author(s)
  Miyake N
- Organizer
  7th International Symposium of Rare Diseases
- Place of Presentation
  Seoul, Korea
- Invited
- Data Source
  KAKENHI-PROJECT-25293235
[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] 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] UQCRC2ホモ接合性変異による新規ミトコンドリア呼吸鎖複合体III欠損症2013
- Author(s)
  三宅紀子、矢野正二、後藤雄一、松本直通
- Organizer
  第58回日本人類遺伝学会
- Place of Presentation
  江陽グランドホテル（宮城県仙台市）
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] A homozygous UQCRC2 mutation cause a neonatal onset metabolic decompensation due to complex III deficiency2013
- Author(s)
  Miyake N, Yano S, Goto Y, Matsumoto N
- Organizer
  The European Human Genetics Conference 2013
- Place of Presentation
  Paris, France
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] Mutations of histone modification genes in Kabuki syndrome2013
- Author(s)
  Miyake N
- Organizer
  The 13thAnnual Meeting of East Asian Union of Human Genetics Societies
- Place of Presentation
  Harpin, China
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] X連鎖性を疑われたがミトコンドリア遺伝病であった一難聴家系の解析2012
- Author(s)
  三宅紀子、鶴崎美徳、Desheng Liang、Lingqian Wu、松本直通
- Organizer
  人類遺伝学会第57回大会・一般口演・臨床遺伝学3
- Place of Presentation
  日京王プラザホテル(東京)
- Year and Date
  2012-10-27
- Data Source
  KAKENHI-PROJECT-23689052
[Presentation] 新型 Ehlers-Danlos 症候群(D4ST1 欠損症)の遺伝学的検索2011
- Author(s)
  三宅紀子、古庄知己、水本秀二、松本直通
- Organizer
  日本人類遺伝学会第56回大会(一般口演)
- Place of Presentation
  幕張メッセ (千葉県)
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-23689052
[Presentation] 新型Ehlers-Danlos症候群(D4ST1欠損症)の遺伝学的検索2011
- Author(s)
  三宅紀子
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ(千葉県)
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-23689052
[Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome2011
- Author(s)
  Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
- Organizer
  Europian Human Genetics Conference 2011 (poster session)
- Place of Presentation
  Amsterdam, The Netherlands
- Year and Date
  2011-05-30
- Data Source
  KAKENHI-PROJECT-23689052
[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] 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] CHST14 mutations in Ehlers-Danlos syndrome2011
- Author(s)
 Noriko Miyake
- Organizer
 The 11^<th> East Asia Union of Human Genetics Annual meeting
- Place of Presentation
 幕張メッセ(千葉県)
- Year and Date
 2011-11-10
- Data Source
 KAKENHI-PROJECT-23689052
[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] 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] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome2011
- Author(s)
  Noriko Miyake
- Organizer
  Europian Human Genetics Conference 2011
- Place of Presentation
  オランダ・アムステルダム
- Year and Date
  2011-05-30
- Data Source
  KAKENHI-PROJECT-23689052
[Presentation] CHST14 mutations in Ehlers-Danlos syndrome2011
- Author(s)
  Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
- Organizer
  The 11th East Asia Union of Human Genetics Annual meeting (oral oresentation)
- Place of Presentation
  幕張メッセ (千葉県)
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-23689052
[Presentation] Carbohydrate sulfotransferasc 14 abnormality in human2010
- Author(s)
  Noriko Miyake
- Organizer
  日本人類遺伝学会
- Place of Presentation
  埼玉県大宮市・大宮ソニックシティーホール(招待講演)
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] Carbohydrate sulfotrans-ferase 14 abnormality in human.2010
- Author(s)
  Miyake N.
- Organizer
  日本人類遺伝学会
- Place of Presentation
  埼玉県大宮市(招待講演)
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21790341
[Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome2010
- Author(s)
  Miyake N, et al.
- Organizer
  American Society of Human Genetics
- 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] 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] 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] 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] メンデル遺伝性疾患の原因解明をめざして(奨励賞受講演)2009
- Author(s)
  三宅紀子
- 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
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21790341
[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] KMT2D and KDM6A mutations in patients with Kabuki syndrome.
- Author(s)
  Miyake N, Koshimizu E, Matsumoto N, Niikawa N.
- Organizer
  The European Human Genetics Conference
- Place of Presentation
  Milan, Italy
- Year and Date
  2014-05-31 – 2014-06-03
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] KMT2D and KDM6A mutations in patients with Kabuki syndrome.
- Author(s)
  Miyake N.
- 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、（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25293235
[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] 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] 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] Clinical comparison of Kabuki syndrome with KMT2D and KDM6A mutations.
- Author(s)
  Miyake N, Koshimizu E, Matsumoto N, Niikawa N.
- Organizer
  The 64th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego, CA, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] 歌舞伎症候群における遺伝子変異と表現型の関連.
- Author(s)
  三宅紀子、輿水江里子、松本直通、新川詔夫.
- 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、（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見
- Author(s)
  古庄知己、三宅紀子、福嶋義光
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島国際会議場など（広島県広島市）
- Data Source
  KAKENHI-PROJECT-25460405
[Presentation] Glycosaminoglycan abnormalities in human bone and connective tissues
- Author(s)
  Miyake N.
- 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、（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25293235
[Presentation] X連鎖性を疑われたがミトコンドリア遺伝病であった一難聴家系の解析
- Author(s)
  三宅紀子
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル　(東京都）
- Data Source
  KAKENHI-PROJECT-23689052

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89. 山下暁朗

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
90. 小坂仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
91. 吉田邦広

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
92. 青戸一司

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
93. 豊田知子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
94. 菅野秀宣

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
95. 新井一

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
96. 高田紗奈美

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
97. 倉橋宏和

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
98. 宮嶋雅一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
99. 酒井康成

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
100. 岡田俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
101. 近藤峰生

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
102. 寺崎浩子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
103. 高田篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
104. 中村春木

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
105. 加藤光広

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
106. 新海陽一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
107. 白髭克彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
108. 中島光子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
109. 新田陽平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
110. 高橋陽介

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
111. 吉浦孝一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
112. 木下晃

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
113. 木下直江

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
114. 小寺啓文

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
115. 毛利育子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
116. 谷池雅子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
117. 飛彈麻里子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
118. 長嶋洋治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
119. 河野通浩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
120. 秋山真志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
121. 小林朋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
122. 松本歩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Miyake Noriko 三宅 紀子

MIYAKE Noriko 三宅 紀子

Research Projects

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Co-Researchers

希少遺伝子疾患の新規遺伝子同定と治療戦略を見据えた病態解析Principal Investigator

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Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome

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Gene identification of rare genetic diseases by Multi-Omics analysisPrincipal Investigator

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Multidirectional approach for human rare diseases using massive parallel sequencingPrincipal Investigator

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Mechanism of biosynthesis of glycosaminoglycan by Golgin, and its hereditary bone and skin disorders

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Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseasesPrincipal Investigator

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Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome

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Roles of chondroitin sulfate interacting with RAGE involved in tumor and Alzheimer's disease

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Genome assay using massive parallel sequencing

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Identification of novel disease genes utilizing next generation sequencerPrincipal Investigator

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Pathogenic mechanisms of the bone diseases caused by defect in chondroitin sulfate biosynthesis

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Development of genome-partitioning technologies for next generation sequencing

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Disease gene identification of a new type of Ehlers-Danlos syndromePrincipal Investigator

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Miyake Noriko 三宅紀子

MIYAKE Noriko 三宅紀子