Miya Fuyuki 宮冬樹

… Alternative Names

MIYA Fuyuki 宮冬樹

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Researcher Number	50415311
Other IDs	https://orcid.org/0000-0001-6758-2015
Affiliation (Current)	2025: 慶應義塾大学, 医学部(信濃町), 准教授
Affiliation (based on the past Project Information) *help	2021 – 2024: 慶應義塾大学, 医学部(信濃町), 准教授 2020 – 2021: 東京医科歯科大学, 難治疾患研究所, 講師 2017 – 2018: 東京医科歯科大学, 難治疾患研究所, 講師 2017: 東京医科歯科大学, 医学部, 助教 2016: 東京医科歯科大学, 難治疾患研究所, 助教 … More 2014: 独立行政法人理化学研究所, 統合医科学研究センター, リサーチアソシエイト 2014: 独立行政法人理化学研究所, 統合生命医科学研究センター, 研究員 2014: 理化学研究所, 統合生命医科学研究センター, リサーチアソシエイト 2013 – 2014: 独立行政法人理化学研究所, 統合生命医科学研究センター, リサーチアソシエイト 2013: 独立行政法人理化学研究所, その他部局等, 研究員 2013: 独立行政法人理化学研究所, ゲノム医科学研究センター情報解析研究チーム, 研究員 2012: 独立行政法人理化学研究所, 統合生命医科学研究センター, 研究員 2012: 独立行政法人理化学研究所, 統計解析・技術開発グループ情報解析研究チーム, 研究員 2012: 理化学研究所, ゲノム医科学研究センター, 研究員 2010 – 2012: 独立行政法人理化学研究所, 情報解析研究チーム, 研究員 Less
Review Section/Research Field	Principal Investigator Basic Section 59040:Nutrition science and health science-related / Medical genome science Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Otorhinolaryngology / Neurochemistry/Neuropharmacology / Cerebral neurosurgery / Neurochemistry/Neuropharmacology / Complex systems
Keywords	Principal Investigator 長寿関連因子 / レアバリアント関連解析 / 百寿 / CHIP / クローン性造血 / 遺伝学 / 遺伝子 / バイオテクノロジー / 脳神経疾患 / 生体生命情報学 … More / 次世代シーケンスのバイオインフォマティクス / 疾患原因変異同定手法開発 / 全ゲノムシーケンス / ミトコンドリア / CNV解析 / 次世代シーケンサー / 遺伝性疾患 / 疾患遺伝子変異 / エクソーム解析 … More Except Principal Investigator ゲノム / 人工知能 / ヒトiPS細胞 / エクソーム解析 / 脳神経疾患 / 神経分化 / 神経幹細胞 / ノンコーディングRNA / ヒトES細胞 / 遺伝子 / 癌 / ロングリードシーケンス / 画像診断 / てんかん / 脳形成異常 / iPS細胞 / オルガノイド / 外側放射状グリア / 神経発生 / 脳オルガノイド / 巨脳症 / 深層学習 / RNA-Seq / RT-PCR / 遺伝子解析 / 小児神経 / SpliceAI / スプライス異常 / エクソーム / 不完全なリプログラミング / ゲノム不安定性 / 造腫瘍性 / 新規疾患遺伝子 / 次世代シーケンサー / 蝸牛神経低形成 / 蝸牛低形成 / 遺伝性難聴 / マイクロアレイ / 蝸牛 / 薬剤標的 / 難聴 / EGCG / 緑茶カテキン / 亜鉛トランスポーター / 加齢性難聴 / エピジェネティクス / 薬剤反応性 / 発生・分化 / 細胞・組織 / niche / undifferentiated state / proliferation / survival / glioma stem cell / バイオテクノロジー / 医療・福祉 / ncRNA / ノンコーディングRAN / ゲノムワイド関連解析 / 国際がんゲノムコンソーシアム / 日本人ゲノム / 構造多型 / コピー数多型 / 多様性 / がんゲノム / クロマチン制御遺伝子 / 遺伝統計学 / 肝臓がん / 情報工学 / オーダーメイド医療 / 予測 / 次世代シークエンサー / オミックス解析 / 遺伝学 / 統計数学 Less

深層学習モデルで解き明かす発達性てんかん性脳症と脳形成異常の遺伝素因と画像診断
- Principal Investigator
  
  加藤光広
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Showa University
Exploration of longevity-related factors using blood somatic mutation and genomic association analysis in centenariansPrincipal Investigator
- Principal Investigator
  
  宮冬樹
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 59040:Nutrition science and health science-related
- Research Institution
  Keio University
Combining Artificial Intelligence and RNA-Seq to elucidate new etiologies of genetic neurological disorders in childhood.
- Principal Investigator
  
  Kato Mitsuhiro
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Showa University
Uncover pathomechanism of megalencephaly using brain organdies.
- Principal Investigator
  
  Saitoh Shinji
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Nagoya City University
Development and assessment of a pathogenic mutations search method for individuals who are difficult to identify the mutations in standard-exome analysisPrincipal Investigator
- Principal Investigator
  
  Miya Fuyuki
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Medical genome science
- Research Institution
  Tokyo Medical and Dental University
Evaluation of human iPSCs by incomplete reprogramming and genome instability
- Principal Investigator
  
  Okada Yohei
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurochemistry/Neuropharmacology
- Research Institution
  Aichi Medical University
The roles of non-coding RNAs on neural differentiaton of human ESCs/iPSCs
- Principal Investigator
  
  Okada Yohei
- Project Period (FY)
  2013 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Neurochemistry/Neuropharmacology
- Research Institution
  Aichi Medical University
  Keio University
Elucidation of novel genes causing auditory neuropathy
- Principal Investigator
  
  MATSUNAGA Tatsuo
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Analysis of niche involved with survival, proliferation, and maintenance of undifferentiated state of glioma stem cell
- Principal Investigator
  
  KANEMURA Yonehiro
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Cerebral neurosurgery
- Research Institution
  National Hospital Organization Osaka National Hospital Institute for Clinical Reserch
Attenuation of Progressive Hearing Loss in DBA/2J Mice by Epigenetic-Modifying Reagents
- Principal Investigator
  
  MUTAI Hideki
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Study of responsible genes for cochlea and cochlear nerve dysplasia
- Principal Investigator
  
  MATSUNAGA Tatsuo
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Otorhinolaryngology
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Analysis of non-coding RNAs regulating neural differentiation of human ES cells.
- Principal Investigator
  
  OKADA Yohei
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Neurochemistry/Neuropharmacology
- Research Institution
  Keio University
Bioinformatic and statistical genetic analysis of cancer
- Principal Investigator
  
  TSUNODA Tatsuhiko
- Project Period (FY)
  2010 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Complex systems
- Research Institution
  The Institute of Physical and Chemical Research

[Journal Article] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome2023
- Author(s)
  Miyamoto Sachiko、Nakamura Kazuyuki、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Annals of Human Genetics
  
  Volume: - Issue: 4 Pages: 196-202
- DOI
  10.1111/ahg.12507
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
[Journal Article] A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome2023
- Author(s)
  Hiraide Takuya、Akita Tenpei、Uematsu Kenji、Miyamoto Sachiko、Nakashima Mitsuko、Sasaki Masayuki、Fukuda Atsuo、Kato Mitsuhiro、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 1 Pages: 25-31
- DOI
  10.1038/s10038-022-01090-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06766, KAKENHI-PUBLICLY-21H05687, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661
[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] Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A2022
- Author(s)
  Isobe Kouji、Ieda Daisuke、Miya Fuyuki、Miyachi Rieko、Otsuji Shiomi、Asai Masami、Tsunoda Tatsuhiko、Kosaki Kenjiro、Hattori Ayako、Saitoh Shinji、Mizuno Mihoko
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 3 Pages: 249-253
- DOI
  10.1016/j.braindev.2021.11.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646
[Journal Article] Efficacy of ethosuximide on atonic seizures with KCNB1 mutation2022
- Author(s)
 Hoshino Hiroki、Miya Fuyuki、Kato Mitsuhiro、Kanemura Hideaki
- Journal Title
 
 Pediatrics International
 
 Volume: 64 Issue: 1
- DOI
 10.1111/ped.14871
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-20K08236
[Journal Article] Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases2022
- Author(s)
  Kato Daiki、Mitsuhashi Satomi、Miya Fuyuki、Saitoh Shinji、Okamoto Nobuhiko、Tsunoda Tatsuhiko、Kochi Yuta
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 12 Pages: 739-742
- DOI
  10.1038/s10038-022-01071-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-21K19501
[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] Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome2022
- Author(s)
  Otsuji Shiomi、Nishio Yosuke、Tsujita Maki、Rio Marlene、Huber Celine、Anton-Plagaro Carlos、Mizuno Seiji、Kawano Yoshihiko、Miyatake Satoko、Simon Marleen、van Binsbergen Ellen、van Jaarsveld Richard H、Matsumoto Naomichi、Cormier-Daire Valerie、J.Cullen Peter、Saitoh Shinji、Kato Kohji
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 60 Issue: 4 Pages: 359-367
- DOI
  10.1136/jmg-2022-108602
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K08631, KAKENHI-PROJECT-19K23823, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-23K14945, KAKENHI-PROJECT-23KJ1817, KAKENHI-PROJECT-23K27520
[Journal Article] Clinical variations of epileptic syndrome associated with PACS2 variant2021
- Author(s)
  Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N and Kato M
- Journal Title
  
  Brain Dev
  
  Volume: 43 Issue: 2 Pages: 343-347
- DOI
  10.1016/j.braindev.2020.10.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
[Journal Article] Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies2021
- Author(s)
  Miyamoto Sachiko、Kato Mitsuhiro、et al and Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 11 Pages: 1061-1068
- DOI
  10.1038/s10038-021-00932-y
- NAID
  120007167202
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
[Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice2021
- Author(s)
  Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
- Journal Title
  
  Nat Commun
  
  Volume: 12 Issue: 1 Pages: 2107-2107
- DOI
  10.1038/s41467-021-22389-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-19H01091, KAKENHI-PUBLICLY-21H05687, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
[Journal Article] A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders2021
- Author(s)
  Kato Kohji、Miya Fuyuki、Oka Yasuyoshi、Mizuno Seiji、Saitoh Shinji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 5 Pages: 491-498
- DOI
  10.1038/s10038-020-00868-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18H03372, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-19K23823
[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] A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies2021
- Author(s)
  Miyamoto Sachiko、Kato Mitsuhiro、Sugiyama Kenji、Horiguchi Ryo、Nakashima Mitsuko、Aoto Kazushi、Mutoh Hiroki、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 12 Pages: 1189-1192
- DOI
  10.1038/s10038-021-00953-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K08236
[Journal Article] Two cases of DYNC1H1 mutations with intractable epilepsy2021
- Author(s)
  Matsumoto Ayumi、Kojima Karin、Miya Fuyuki、Miyauchi Akihiko、Watanabe Kazuhisa、Iwamoto Sadahiko、Kawai Kensuke、Kato Mitsuhiro、Takahashi Yukitoshi、Yamagata Takanori
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 8 Pages: 857-862
- DOI
  10.1016/j.braindev.2021.05.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08914
[Journal Article] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy2021
- Author(s)
  Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 108 Issue: 4 Pages: 739-748
- DOI
  10.1016/j.ajhg.2021.02.015
- Data Source
  KAKENHI-PROJECT-20K08236
[Journal Article] Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability2021
- Author(s)
  Okamoto Nobuhiko、Miya Fuyuki、Kitai Yukihiro、Tsunoda Tatsuhiko、Kato Mitsuhiro、Saitoh Shinji、Kanemura Yonehiro、Kosaki Kenjiro
- Journal Title
  
  Neurological Sciences
  
  Volume: - Issue: 7 Pages: 2975-2978
- DOI
  10.1007/s10072-021-05152-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646
[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
- Journal Title
  
  Science Advances
  
  Volume: 7 Issue: 13 Pages: 2368-2368
- DOI
  10.1126/sciadv.abd2368
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K06893, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K22601, KAKENHI-PROJECT-18K15677, KAKENHI-PUBLICLY-19H04795, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03438, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-20H03270, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K19413
[Journal Article] SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation2021
- Author(s)
  Negishi Yutaka、Aoki Yusuke、Itomi Kazuya、Yasuda Kazushi、Taniguchi Hiroaki、Ishida Atsushi、Arakawa Takeshi、Miyamoto Sachiko、Nakashima Mitsuko、Saitsu Hirotomo、Saitoh Shinji
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 7 Pages: 804-808
- DOI
  10.1016/j.braindev.2021.03.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-21K15885
[Journal Article] Four pedigrees with aminoacyl-tRNA synthetase abnormalities2021
- Author(s)
  Okamoto Nobuhiko、Miya Fuyuki、Tsunoda Tatsuhiko、Kanemura Yonehiro、Saitoh Shinji、Kato Mitsuhiro、Yanagi Kumiko、Kaname Tadashi、Kosaki Kenjiro
- Journal Title
  
  Neurological Sciences
  
  Volume: 43 Issue: 4 Pages: 2765-2774
- DOI
  10.1007/s10072-021-05626-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K09916
[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] Expanding the KIF4A‐associated phenotype2021
- Author(s)
  Kalantari Silvia、Carlston Colleen、Alsaleh Norah、Kato Mitsuhiro、Matsumoto Naomichi、Miyatake Satoko、Yamamoto Tatsuya、Dobyns William B.、Filges Isabel
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 185 Issue: 12 Pages: 3728-3739
- DOI
  10.1002/ajmg.a.62443
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
[Journal Article] Phenotype?genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms2020
- Author(s)
  Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 2 Pages: 199-204
- DOI
  10.1016/j.braindev.2019.10.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-18K19305
[Journal Article] 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] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020
- Author(s)
  Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
- Journal Title
  
  J Med Genet
  
  Volume: 0 Issue: 8 Pages: 106896-106896
- DOI
  10.1136/jmedgenet-2020-106896
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K16577
[Journal Article] MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome2019
- Author(s)
  Kato Kohji、Miya Fuyuki、Hamada Nanako、Negishi Yutaka、Narumi-Kishimoto Yoko、Ozawa Hiroshi、Ito Hidenori、Hori Ikumi、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Kanemura Yonehiro、Kosaki Kenjiro、Takahashi Yoshiyuki、Nagata Koh-ichi、Saitoh Shinji
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 印刷中 Issue: 6 Pages: 388-395
- DOI
  10.1136/jmedgenet-2018-105487
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-18K19524, KAKENHI-PROJECT-18H02690, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-19K07059
[Journal Article] Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation2019
- Author(s)
 山形誠也、齋藤伸治、服部文子、宮冬樹、久保田裕子、遠藤剛、根岸豊、中村勇治、角田達彦、小崎健次郎
- Journal Title
 
 NO TO HATTATSU
 
 Volume: 51 Issue: 1 Pages: 29-32
- DOI
 10.11251/ojjscn.51.29
- NAID
 130007604558
- ISSN
 0029-0831, 1884-7668
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-16K07211
[Journal Article] A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome2018
- Author(s)
  Hori Ikumi、Miya Fuyuki、Negishi Yutaka、Hattori Ayako、Ando Naoki、Boroevich Keith A.、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Saitoh Shinji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 9 Pages: 957-963
- DOI
  10.1038/s10038-018-0482-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration.2018
- Author(s)
  Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, Ashikawa K, Oshima Y, Yasuda M, Yoshida S, Enaida H, Tan X, Yanagi Y, Yasukawa T, Ogura Y, Nagai Y, Takahashi K, Fujisawa K, Inoue M, Arakawa A, Tanaka K, Yuzawa M, Kadonosono K, Sonoda KH, Ishibashi T, Kubo M.
- Journal Title
  
  J Hum Genet
  
  Volume: 63 Issue: 10 Pages: 1083-1091
- DOI
  10.1038/s10038-018-0493-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K11454, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16K11293
[Journal Article] Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa2018
- Author(s)
  Ikeda Yasuhiro、Nishiguchi Koji M.、Miya Fuyuki、Shimozawa Nobuhiro、Funatsu Jun、Nakatake Shunji、Fujiwara Kohta、Tachibana Takashi、Murakami Yusuke、Hisatomi Toshio、Yoshida Shigeo、Yasutomi Yasuhiro、Tsunoda Tatsuhiko、Nakazawa Toru、Ishibashi Tatsuro、Sonoda Koh-Hei
- Journal Title
  
  Investigative Opthalmology & Visual Science
  
  Volume: 59 Issue: 2 Pages: 826-826
- DOI
  10.1167/iovs.17-22958
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-17K08146, KAKENHI-PROJECT-16H06268
[Journal Article] A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX102018
- Author(s)
  Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, and Tatsuo Matsunaga
- Journal Title
  
  BMC Pediatrics
  
  Volume: 18 Issue: 1 Pages: 171-171
- DOI
  10.1186/s12887-018-1139-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K09336, KAKENHI-PROJECT-16K07211
[Journal Article] Gene expression dataset for whole cochlea of Macaca fascicularis2018
- Author(s)
  Hideki Mutai, Fuyuki Miya, Hiroaki Shibata, Yasuhiro Yasutomi, Tatsuhiko Tsunoda, Tatsuo Matsunaga
- Journal Title
  
  Scientific Reports
  
  Volume: 8 Issue: 1 Pages: 15554-15554
- DOI
  10.1038/s41598-018-33985-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K09336, KAKENHI-PROJECT-16K07211
[Journal Article] Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome2018
- Author(s)
  Tamai Kei、Tada Katsuhiko、Takeuchi Akihito、Nakamura Makoto、Marunaka Hidenori、Washio Yosuke、Tanaka Hiroyuki、Miya Fuyuki、Okamoto Nobuhiko、Kageyama Misao
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 176 Issue: 3 Pages: 682-686
- DOI
  10.1002/ajmg.a.38598
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis2018
- Author(s)
  Shigemizu Daichi、Miya Fuyuki、Akiyama Shintaro、Okuda Shujiro、Boroevich Keith A、Fujimoto Akihiro、Nakagawa Hidewaki、Ozaki Kouichi、Niida Shumpei、Kanemura Yonehiro、Okamoto Nobuhiko、Saitoh Shinji、Kato Mitsuhiro、Yamasaki Mami、Matsunaga Tatsuo、Mutai Hideki、Kosaki Kenjiro、Tsunoda Tatsuhiko
- Journal Title
  
  Scientific Reports
  
  Volume: 8 Issue: 1 Pages: 5608-5608
- DOI
  10.1038/s41598-018-23978-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K15530, KAKENHI-PROJECT-16K19068, KAKENHI-PROJECT-18K09336, KAKENHI-PLANNED-18H05511, KAKENHI-PROJECT-16H04726, KAKENHI-PROJECT-18H02680, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16H06299
[Journal Article] Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement2017
- Author(s)
  Hori Ikumi、Otomo Takanobu、Nakashima Mitsuko、Miya Fuyuki、et al.、Saitoh Shinji
- Journal Title
  
  Scientific Reports
  
  Volume: 7 Issue: 1 Pages: 3552-3552
- DOI
  10.1038/s41598-017-02840-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PLANNED-25111002, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Novel MCA/ID syndrome with ASH1L mutation.2017
- Author(s)
  Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
- Journal Title
  
  Am. J. Med. Genet. A
  
  Volume: 印刷中 Issue: 6 Pages: 1644-1648
- DOI
  10.1002/ajmg.a.38193
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] Siblings with optic neuropathy and RTN4IP1 mutation2017
- Author(s)
  Okamoto Nobuhiko、Miya Fuyuki、Hatsukawa Yoshikazu、Suzuki Yasuhiro、Kawato Kazumi、Yamamoto Yuto、Tsunoda Tatsuhiko、Kato Mitsuhiro、Saitoh Shinji、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 10 Pages: 927-929
- DOI
  10.1038/jhg.2017.68
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology2017
- Author(s)
  Okamoto Nobuhiko、Tsuchiya Yuki、Miya Fuyuki、Tsunoda Tatsuhiko、Yamashita Kumiko、Boroevich Keith A.、Kato Mitsuhiro、Saitoh Shinji、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Kitagawa Daiju
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 173 Issue: 10 Pages: 2690-2696
- DOI
  10.1002/ajmg.a.38391
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PLANNED-24113003, KAKENHI-PROJECT-16H06168
[Journal Article] Identification of a human clonogenic progenitor with strict monocyte differentiation potential: A counterpart of mouse cMoPs2017
- Author(s)
  Kawamura S, Onai N, Miya F, Sato T, Tsunoda T, Kurabayashi K, Yotsumoto S, Kuroda S, Takenaka K, Akashi K, Ohteki T
- Journal Title
  
  Immunity
  
  Volume: 46 Issue: 5 Pages: 835-848
- DOI
  10.1016/j.immuni.2017.04.019
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26253029, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16H06391, KAKENHI-PROJECT-15H04717, KAKENHI-PROJECT-15K15365
[Journal Article] The prediction models for postoperative overall survival and disease-free survival in patients with breast cancer2017
- Author(s)
  Shigemizu Daichi、Iwase Takuji、Yoshimoto Masataka、Suzuki Yasuyo、Miya Fuyuki、Boroevich Keith A、Katagiri Toyomasa、Zembutsu Hitoshi、Tsunoda Tatsuhiko
- Journal Title
  
  Cancer Medicine
  
  Volume: 6 Issue: 7 Pages: 1627-1638
- DOI
  10.1002/cam4.1092
- NAID
  120006894608
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16H06299
[Journal Article] Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis2017
- Author(s)
  Ishigaki Kazuyoshi、Kochi Yuta、Suzuki Akari、Tsuchida Yumi、Tsuchiya Haruka、Sumitomo Shuji、Yamaguchi Kensuke、Nagafuchi Yasuo、Nakachi Shinichiro、Kato Rika、Sakurai Keiichi、Shoda Hirofumi、Ikari Katsunori、Taniguchi Atsuo、Yamanaka Hisashi、Miya Fuyuki、Tsunoda Tatsuhiko、et al.、Yamamoto Kazuhiko
- Journal Title
  
  Nature Genetics
  
  Volume: 49 Issue: 7 Pages: 1120-1125
- DOI
  10.1038/ng.3885
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-17K09972, KAKENHI-PLANNED-15H05911, KAKENHI-PROJECT-15H05787, KAKENHI-PROJECT-15H04965, KAKENHI-PROJECT-15H05670
[Journal Article] A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate2017
- Author(s)
  Kato Koji、Miya Fuyuki、Hori Ikumi、Ieda Daisuke、Ohashi Kei、Negishi Yutaka、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Saitoh Shinji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 9 Pages: 861-863
- DOI
  10.1038/jhg.2017.53
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16K15530
[Journal Article] Teratoma Formation Assay for Assessing Pluripotency and Tumorigenicity of Pluripotent Stem Cells2017
- Author(s)
  Miyawaki Shingo、Okada Yohei、Okano Hideyuki、Miura Kyoko
- Journal Title
  
  BIO-PROTOCOL
  
  Volume: 7 Issue: 16
- DOI
  10.21769/bioprotoc.2518
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19465, KAKENHI-PROJECT-17K17924, KAKENHI-PUBLICLY-17H05707, KAKENHI-PROJECT-15H04278, KAKENHI-PROJECT-16K14602
[Journal Article] Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.2017
- Author(s)
  Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T
- Journal Title
  
  Diabetes
  
  Volume: 66 Issue: 10 Pages: 2713-2723
- DOI
  10.2337/db17-0301
- NAID
  40021637919
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K01838, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-15K09409, KAKENHI-PROJECT-26000012
[Journal Article] A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.2017
- Author(s)
  Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
- Journal Title
  
  BMC Med Genet.
  
  Volume: 18 Issue: 1 Pages: 4-4
- DOI
  10.1186/s12881-016-0363-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H06148, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16K15238, KAKENHI-PROJECT-16K15530, KAKENHI-PROJECT-26250027, KAKENHI-PROJECT-16K15239, KAKENHI-PROJECT-17H01398
[Journal Article] Tumour resistance in induced pluripotent stem cells derived from naked mole-rats2016
- Author(s)
  Miyawaki S, Kawamura Y, Oiwa Y, Shimizu A, Hachiya T, Bono H, Koya I, Okada Y, Kimura T, Tsuchiya Y, Suzuki S, Onishi N, Kuzumaki N, Matsuzaki Y, Narita M, Ikeda E, Okanoya K, Seino K, Saya H, Okano H, Miura K.
- Journal Title
  
  Nat. Commun.
  
  Volume: in press
- NAID
  120006535074
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15H04278
[Journal Article] Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome.2016
- Author(s)
  Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.
- Journal Title
  
  Am. J. Med. Genet. A
  
  Volume: 170 Issue: 7 Pages: 1863-1867
- DOI
  10.1002/ajmg.a.37653
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.2016
- Author(s)
  Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, *Kurahashi H.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 24 Issue: 12 Pages: 1702-1706
- DOI
  10.1038/ejhg.2016.119
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15H04710, KAKENHI-PROJECT-16K07211
[Journal Article] ALDH18A1-related cutis laxa syndrome with cyclic vomiting.2016
- Author(s)
  Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 7 Pages: 678-684
- DOI
  10.1016/j.braindev.2016.01.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07211
[Journal Article] Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.2016
- Author(s)
  Hamada, N., Negishi, Y., Mizuno, M., Miya, F., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Tabata, H., Saitoh, S., Nagata, K.-I.
- Journal Title
  
  J. Neurochem.
  
  Volume: 140 Issue: 1 Pages: 82-95
- DOI
  10.1111/jnc.13878
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25430046, KAKENHI-PROJECT-16K07037, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-15K15399, KAKENHI-PROJECT-16H05363
[Journal Article] Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity2015
- Author(s)
  Fujimoto A, Furuta M, Shiraishi Y, Shigemizu D, Abe T, Boroevich KA, Nakano K, Yamamoto Y, Tanaka H, Shibuya T, Shibata T, Kubo M, Chayama K, Miyano S, Tsunoda T, Nakagawa H, 他
- Journal Title
  
  Nature Communications
  
  Volume: 6 Issue: 1 Pages: 6120-6120
- DOI
  10.1038/ncomms7120
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22134008, KAKENHI-PUBLICLY-25134717, KAKENHI-PUBLICLY-25134720, KAKENHI-PROJECT-25670375, KAKENHI-PUBLICLY-26114721, KAKENHI-PROJECT-26430196
[Journal Article] High prevalence of CDH23 mutation in patients with congenital high-frequency recessive or sporadic hereditary hearing loss2015
- Author(s)
  Mizutari K, Mutai H., Namba K., Miyanaga Y., Nakano A., Arimoto Y., Masuda S., Morimoto N., Sakamoto H., Kaga K., Matsunaga T.
- Journal Title
  
  Orphanet Journal of Rare Diseases
  
  Volume: 10 Issue: 1 Pages: 60-60
- DOI
  10.1186/s13023-015-0276-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24592573, KAKENHI-PROJECT-15K10773, KAKENHI-PROJECT-26462572
[Journal Article] Attenuation of Progressive Hearing Loss in DBA/2J Mice by Reagents that Affect Epigenetic Modifications Is Associated with Up-Regulation of the Zinc Importer Zip42015
- Author(s)
  Mutai H., Miya F., Fujii M., Tsunoda T., Matsunaga T.
- Journal Title
  
  PLOS ONE
  
  Volume: 10 Issue: 4 Pages: e0124301-e0124301
- DOI
  10.1371/journal.pone.0124301
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24592573
[Journal Article] Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage2015
- Author(s)
  Andoh-Noda T, Akamatsu W, Miyake K, Matsumoto T, Yamaguchi R, Sanosaka T, Okada Y, Kobayashi T, Ohyama M, Nakashima K, Kurosawa H, Kubota T, Okano H
- Journal Title
  
  Mol Brain
  
  Volume: ８ Issue: 1 Pages: 31-31
- DOI
  10.1186/s13041-015-0121-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09592, KAKENHI-PROJECT-25640038, KAKENHI-PUBLICLY-15H01568, KAKENHI-PROJECT-15H04278, KAKENHI-PROJECT-15K15388, KAKENHI-PLANNED-26117007
[Journal Article] A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss2014
- Author(s)
  Masuda S., Namba K., Mutai H., Usui S., Miyanaga Y., Kaneko H., Matsunaga T.
- Journal Title
  
  Biochem Biophys Res Comm
  
  Volume: 447 Issue: 3 Pages: 196-502
- DOI
  10.1016/j.bbrc.2014.04.015
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24592573, KAKENHI-PROJECT-26280108
[Journal Article] The construction of risk prediction models using GWAS data and its application to a type 2 diabetes prospective cohort2014
- Author(s)
  Shigemizu D, Abe T, Morizono T, Johnson TA, Boroevich KA, Hirakawa Y, Ninomiya T, Kiyohara Y, Kubo M, Nakamura Y, Maeda S, Tsunoda T
- Journal Title
  
  PLoS One
  
  Volume: 9 Issue: 3 Pages: e92549-e92549
- DOI
  10.1371/journal.pone.0092549
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22134008, KAKENHI-PROJECT-221S0001
[Journal Article] Utility of Scalp Hair Follicles as a Novel Source of Biomarker Genes for Psychiatric Illnesses.2014
- Author(s)
  Maekawa M, Yamada K, Toyoshima M, Ohnishi T, Iwayama Y, Shimamoto C, Toyota T, Nozaki Y, Balan S, Matsuzaki H, Iwata Y, Suzuki K, Miyashita M, Kikuchi M, Kato M, Okada Y, Akamatsu W, Mori N, Owada Y, Itokawa M, Okano H, Yoshikawa T.
- Journal Title
  
  Biological Psychiatry
  
  Volume: 3223 Issue: 2 Pages: 00570-00578
- DOI
  10.1016/j.biopsych.2014.07.025
- NAID
  40020643113
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-ORGANIZER-24116001, KAKENHI-PLANNED-24116002, KAKENHI-PROJECT-24390282, KAKENHI-PUBLICLY-25110730, KAKENHI-PROJECT-25640038, KAKENHI-PROJECT-25670520, KAKENHI-PROJECT-25861037, KAKENHI-PROJECT-26293267, KAKENHI-PROJECT-15K09849, KAKENHI-PROJECT-26350122, KAKENHI-PLANNED-26117007, KAKENHI-PROJECT-25253074, KAKENHI-PROJECT-25461762
[Journal Article] Increased l1 retrotransposition in the neuroral genome in schizophrenia.2014
- Author(s)
  Miki Bundo, Manabu Toyoshima, Yohei Okada, Wado Akamatsu, Junko Ueda, Taeko Nemoto-Miyauchi, Fumiko Sunaga, Michihiro Toritsuka, Daisuke Ikawa, Akiyoshi Kakita, Motoichiro Kato, Kiyoto Kasai, Toshifumi Kishimoto, Hiroyuki Nawa, Hideyuki Okano, Takeo Yoshikawa, Tadafumi Katoemail, Kazuya Iwamoto
- Journal Title
  
  Neuron
  
  Volume: 81 Issue: 2 Pages: 306-313
- DOI
  10.1016/j.neuron.2013.10.053
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-221S0003, KAKENHI-PLANNED-23118004, KAKENHI-PLANNED-23120009, KAKENHI-PROJECT-23390293, KAKENHI-PROJECT-23618010, KAKENHI-PROJECT-23689017, KAKENHI-ORGANIZER-24116001, KAKENHI-PLANNED-24116002, KAKENHI-PLANNED-24116009, KAKENHI-PLANNED-24116010, KAKENHI-PUBLICLY-25110730, KAKENHI-PROJECT-25640038, KAKENHI-PROJECT-25861037
[Journal Article] Integrated analysis of whole genome and transcriptome sequencing reveals diverse transcriptomic aberrations driven by somatic genomic changes in liver cancers2014
- Author(s)
  Shiraishi Y, Fujimoto A, Furuta M, Chayama K, Tsunoda T, Miyano S, and Nakagawa H, 他
- Journal Title
  
  PLoS One
  
  Volume: 9 Issue: 12 Pages: e114263-e114263
- DOI
  10.1371/journal.pone.0114263
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22134008, KAKENHI-PUBLICLY-25134717, KAKENHI-PROJECT-25670375, KAKENHI-PROJECT-26430196, KAKENHI-PROJECT-26670383, KAKENHI-PROJECT-221S0001
[Journal Article] Integrated molecular analysis of clear-cell renal cell carcinoma.2013
- Author(s)
  Sato Y, Yoshida K
- Journal Title
  
  Nature Genet.
  
  Volume: 45 Issue: 8 Pages: 860-867
- DOI
  10.1038/ng.2699
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-12J04216, KAKENHI-PLANNED-22134008, KAKENHI-PLANNED-24112006, KAKENHI-PROJECT-24221011, KAKENHI-PROJECT-24700272, KAKENHI-PROJECT-25291023, KAKENHI-PROJECT-25670446, KAKENHI-PROJECT-25730173, KAKENHI-PROJECT-25860521
[Journal Article] Morphological and microarray analyses of human hepatocytes from xenogeneic host livers.2013
- Author(s)
  Tateno C, Miya F, Wake K, Kataoka M, Ishida Y, Yamasaki C, Yanagi A, Kakuni M, Wisse E, Verheyen F, Inoue K, Sato K, Kudo A, Arii S, Itamoto T, Asahara T, Tsunoda T, Yoshizato K.
- Journal Title
  
  Laboratory investigation
  
  Volume: 93 Issue: 1 Pages: 54-71
- DOI
  10.1038/labinvest.2012.158
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22134008, KAKENHI-PROJECT-24591868
[Journal Article] High-Risk Ovarian Cancer Based on 126-Gene Expression Signature Is Uniquely Characterized by Downregulation of Antigen Presentation Pathway2012
- Author(s)
  Kosuke Yoshihara
- Journal Title
  
  Clinical Cancer Research
  
  Volume: 18 Issue: 5 Pages: 1374-1385
- DOI
  10.1158/1078-0432.ccr-11-2725
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-09F09353, KAKENHI-PROJECT-21390449, KAKENHI-PROJECT-21592141, KAKENHI-PLANNED-22134008, KAKENHI-PROJECT-23510242, KAKENHI-PROJECT-23791835, KAKENHI-PROJECT-24650149
[Journal Article] Predicting response of bladder cancers to gemcitabine and carboplatin neoadjubant chemotherapy through genome-wide gene expression profiling2011
- Author(s)
  Y.Kato, H.Zembutsu, R.Takata, F.Miya, T.Tsunoda, W.Obara, T.Fujioka, Y.Nakamura
- Journal Title
  
  Experimental and Therapeutic Medicine
  
  Volume: 2 Issue: 1 Pages: 47-56
- DOI
  10.3892/etm.2010.166
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22134008
[Journal Article] Whole genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing.2010
- Author(s)
  A.Fujimoto, H.Nakagawa, N.Hosono, K.Nakano, T.Abe, K.A.Boroevich, M.Nagasaki, R.Yamaguchi, T.Shibuya, M.Kubo, S.Miyano, Y.Nakamura, T.Tsunoda.
- Journal Title
  
  Nature Genetics
  
  Volume: 42 Pages: 931-936
- NAID
  40019159184
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22134008
[Patent] iPS細胞のクローンの選択方法、及びその選択方法に用いる遺伝子の選択方法2012
- Inventor(s)
  岡田洋平、岡野栄之、角田達彦、宮冬樹
- Industrial Property Rights Holder
  学校法人慶應義塾
- Filing Date
  2012-02-27
- Overseas
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] Identification of a novel deep intronic DDC variant in patients with aromatic l-amino acid decarboxylase deficiency．2023
- Author(s)
  E Koshimizu, S Miyatake, K Misawa, Y Uchiyama, N Tsuchida, K Hamanaka, A Fujita, T Mizuguchi, M Kato, N Matsumoto
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236
[Presentation] Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome2023
- Author(s)
  S Miyamoto, K Nakamura, M Kato, M Nakashima, H Saitsu
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236
[Presentation] Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.2022
- Author(s)
  Otsuji S, Nishio Y, Tsujita M, Rio M, Huber C, Anton-Plagaro C, Mizuno S, Kawano Y, Miyatake S, Simon M, van Binsbergen E, van Jaarsveld RH, Matsumoto N, Cormier-Daire V, J Cullen P, Saitoh S, Kato K
- Organizer
  American Society of Human Genetics Annual Meeting 2022
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] Biallelic variants in PNPLA8 disrupt cortical gyrification through aberrant mitochondrial dynamics.2022
- Author(s)
  Nakamura Y, Shimada IS, Fujimoto M, Sato E, Ieda D, Hattori A, Miya F, Tsunoda T, Okubo Y, Haginoya K, Koshimizu E, Miyatake S, Matsumoto N, Arioka Y, Ozaki N, Kato Y, Saitoh S.
- Organizer
  第64回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] PNPLA8 deficiency induces microcephaly and reduces neurogenesis in a brain organoid model.2021
- Author(s)
  Nakamura Y, Shimada I, Fujimoto M, Sato E, Ieda D, Hattori A, Miya F, Tsunoda T, Okubo Y, Haginoya K, Koshimizu E, Miyatake S, Matsumoto N, Arioka Y, Ozaki N, Kato Y, Saitoh S
- Organizer
  第63回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] VPS35L pathogenic variants cause 3C/Ritscher-Scinzel-like syndrome: Description of two novel cases confirming the pathogenicity and clinical diversity.2021
- Author(s)
  Otsuji S, Kato K, Lequesne CH, Mizuno S, Rio M, Miyatake S, Nishio Y, Matsumoto N, Cormier-Daire V, Saitoh
- Organizer
  American Society of Human Genetics Virtual Meeting 2021
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome.2020
- Author(s)
  Shiomi Otsuji, Kohji Kato, Seiji Mizuno, Satoko Miyatake, Naomichi Matsumoto, Shinji Saitoh
- Organizer
  第65回人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討.2020
- Author(s)
  堀いくみ, 宮冬樹, 中島光子, 中村勇治, 家田大輔, 大橋圭, 根岸豊, 服部文子, 安藤直樹, 角田達彦, 才津浩智, 金村米博, 小崎健次郎, 齋藤伸治
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03646
[Presentation] Identification of SLC12A2 as a Candidate Deafness Gene in Human.2019
- Author(s)
  utai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Michiaki Kubo M, Matsunaga T.
- Organizer
  Association for Research in Otolaryngology (ARO) 42nd Annual Midwinter Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Whole Exome Sequencingにより同定された新規難聴原因候補SLC12A2とその変異2018
- Author(s)
  務台英樹、和佐野浩一郎、桃沢幸秀、鎌谷洋一郎、宮冬樹、奈良清光、角田達彦、本間和明、久保充明、松永達雄
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 頭部外傷を契機に精査診断に至ったSotos症候群の乳児例2018
- Author(s)
  四本由郁, 原田敦子, 宮冬樹, 金村米博, 岡本伸彦, 角田達彦, 加藤光広, 齋藤伸治, 小崎健次郎, 玉置知子
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 小児骨肉腫における肺転移症例に特徴的なゲノム異常2018
- Author(s)
  巽康年、米本司、宮　冬樹、角田　達彦、鴨田博人、石井猛、大平美紀、永瀬浩喜、下里　修、岩田慎太郎
- Organizer
  第77回日本癌学会学術総会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 3家系より同定された新規難聴原因候補SLC12A2と変異の機能解析（SLC12A2 was identified as a candidate of novel deafness gene from 3 families）2018
- Author(s)
  務台英樹、和佐野浩一郎、桃沢幸秀、鎌谷洋一郎、宮冬樹、奈良清光、タカハシサトエ、角田達彦、本間和明、久保充明、松永達雄
- Organizer
  第41回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Beyond the limitations of exome analysis for genetic disorders2018
- Author(s)
  Fuyuki Miya
- Organizer
  The 13th International Symposium of the Institute Network for Biomedical Sciences joint with the 28th Hot Spring Harbor Symposium
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome2018
- Author(s)
  Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata K, Saitoh S
- Organizer
  The American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] RAB11B遺伝子異常による新規Neurogenetic syndrome2018
- Author(s)
  岡本伸彦, 宮冬樹, 加藤光広, 金村米博, 齋藤伸治, 角田達彦, 小崎健次郎
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Beyond the limitations of exome analysis for genetic disorders（exome解析による疾患原因変異探索の限界を突破するための手法の検証）2018
- Author(s)
  宮　冬樹, 重水　大智, 金村米博, 齋藤伸治, 岡本伸彦, 加藤光広, 松永達雄, 務台英樹, 小崎健次郎, 角田　達彦
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome2018
- Author(s)
  Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata K, Saitoh S.
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 異所性灰白質，多小脳回，口蓋裂を呈し，NEDD4Lに新規のミスセンス変異を認めた1例2018
- Author(s)
  加藤耕治, 宮冬樹, 中村勇治, 家田大輔, 堀いくみ, 根岸豊, 服部文子, 齋藤伸治
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Genotype-phenotype Correlations and Structural Basis of the Pathogenic Mutations in INSR and IGF1R2018
- Author(s)
  Hosoe J, Kadowaki H, Miya F, Takakura M, Suzuki K, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T.
- Organizer
  The 78th Scientific Sessions of the American Diabetes Association
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] PI3K-AKT-mTOR経路異常による巨脳症の臨床的・分子遺伝学的・生化学的検討 (Clinical, genetic, and biochemical analyses for PI3K-AKT-mTOR pathway-associated megalencephaly)2018
- Author(s)
  堀いくみ, 宮冬樹,中村勇治,家田大輔,根岸豊,服部文子,角田達彦,金村米博,小崎健次郎,齋藤伸治
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Structural basis of mutations of the tyrosine kinase domain in INSR and the relations with clinical severity.（インスリン受容体 tyrosine kinase domainをコードする遺伝子変異に伴うタンパク質立体障害と臨床的重症度の関連）2018
- Author(s)
  Hosoe J, Kadowaki H, Miya F, Takakura M, Tanaka M, Ishiura H, Tsuji S, Tsundoa T, Sshojima N, Yamauchi T, Kadowaki T.
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Dandy-Walker症候群をきたしたプラスミノゲン欠損症例の経過と遺伝カウンセリング2017
- Author(s)
  原田敦子，四本由郁，夫律子，高畑靖子，宮冬樹，金村米博，岡本伸彦，角田達彦，加藤光広，齋藤信治，小崎健次郎，山崎麻美，玉置知子
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] インスリン受容体遺伝子フィブロロネクチンタイプ 3 ドメインにおける遺伝子変異の蛋白質立体構造への影響と臨床的重症度の関連2017
- Author(s)
  細江隼, 門脇弘子, 宮冬樹, 高倉美菜香, 会津克哉, 宮田市郎, 川村智行, 里村憲一, 伊東建, 原一雄, 田中真生, 石浦浩之, 辻省次, 鈴木顕, 角田達彦, 庄嶋伸浩, 山内敏正, 門脇孝
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] PI3K-AKT-mTOR経路異常による巨脳症の臨床的・分子遺伝学的・生化学的検討2017
- Author(s)
  堀いくみ、根岸豊、宮冬樹、角田達彦、金村米博、小崎健次郎、齋藤伸治
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy2017
- Author(s)
  横井摂理, 堤真紀子, 宮冬樹, 宮田昌史, 加藤光広, 岡本伸彦, 角田達彦, 山崎麻美, 金村米博, 小崎健次郎, 齋藤伸治, 倉橋浩樹
- Organizer
  第59回小児神経学会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] PNKP遺伝子に複合へテロ変異を認めた難治性てんかんの一例2017
- Author(s)
  緒方怜奈, 宮冬樹, 加藤光広
- Organizer
  第51回日本てんかん学会学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] evere Insulin Resistance Caused by Mutations in INSR: Genotype-phenotype Correlations and Structural Characterization of the Mutations2017
- Author(s)
  Jun Hosoe, Hiroko Kadowaki, Fuyuki Miya, Ichiro Miyata, Aizu Katsuya, Tomoyuki Kawamura, Kenichi Satomura, Takeru Ito, Tatsuhiko Tsunoda, Toshimasa Yamauchi, Nobuhiro Shojima, Takashi Kadowaki
- Organizer
  The 77th Scientific Sessions of the American Diabetes Association
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] インスリン受容体遺伝子変異に関するタンパク質立体構造への影響と表現型の相関2017
- Author(s)
  細江隼、門脇弘子、宮冬樹、会津克哉、宮田市郎、川村智行、里村憲一、鈴木顕、高倉美菜香、角田達彦、山内敏正、庄嶋伸浩、門脇孝
- Organizer
  第60回日本糖尿病学会年次学術集会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 既存のexome解析では疾患原因変異同定が困難な検体の原因変異探索手法の開発2017
- Author(s)
  宮冬樹, 重水大智, 齋藤伸治, 須藤章, 中川　英刀, 奥田修二郎, 岡本伸彦, 加藤光広, 山崎麻美, Keith A. Boroevich, 金村米博, 小崎健次郎, 角田達彦
- Organizer
  次世代現場の会第5回研究会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 疾患原因変異発見のための正確な中間サイズインデル検出法の開発2017
- Author(s)
  重水大智, 宮冬樹, 秋山真太郎, 奥田修二郎, Keith Boroevich, 藤本明洋, 中川英刀, 尾崎浩一, 新飯田俊平, 金村米博, 岡本伸彦, 齋藤伸治, 加藤光広, 山崎麻美, 松永達雄, 務台英樹, 小崎健次郎, 角田達彦
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] 既存のexome解析では疾患原因変異同定が困難な検体の原因変異探索手法の開発2017
- Author(s)
  宮冬樹, 重水大智, 金村米博, 齋藤伸治, 岡本伸彦, 加藤光広, 山崎麻美, 松永達雄, 務台英樹, 小崎健次郎, 角田　達彦
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome.2017
- Author(s)
  Shinji Saitoh, Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Tatsuhiko Tsunoda, Naomichi Matsumoto, Tamotsu Yoshimori
- Organizer
  14th Asian and Oceanian Congress of Child Neurology (AOCCN)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.2016
- Author(s)
  Fuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, Nobuhiko Okamoto, Shinji Saitoh, Mami Yamasaki, Daichi Shigemizu, Tetsuo Abe, Takashi Morizono, Keith A. Boroevich, Kenjiro Kosaki, Yonehiro Kanemura, Tatsuhiko Tsunoda.
- Organizer
  ICHG (The 13th International Congress of Human Genetics)
- Place of Presentation
  Kyoto International Conference Center, Kyoto, Japan
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07211
[Presentation] Comprehensive analysis of genetic variation by whole genome sequencing2014
- Author(s)
  藤本明洋, 十時泰, 宮野悟, 角田逹彦, 柴田龍弘, 中川英刀
- Organizer
  金沢国際がん生物学＆アカデミア創薬シンポジウム
- Place of Presentation
  東京
- Invited
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Analysis of mutational landscape and genetic heterogeneity in liver cancer with whole genome sequencing2014
- Author(s)
  Fujimoto A, Furuta M, Shiraishi Y, Chayama K, Miyano S, Tsunoda T, and Nakagawa H, 他
- Organizer
  American Society of Human Genetics
- Place of Presentation
  San Diego, USA
- Year and Date
  2014-10-20
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 脳室内出血を契機に甲状腺濾胞癌の脳室内転移と診断された一例2014
- Author(s)
  梅原徹，埜中正博，森康輔，宮崎裕子，沖田典子，金村米博，山中一功，児玉良典，中島伸
- Organizer
  第67回日本脳神経外科学会近畿支部学術集会・第69回近畿脊髄外科研究会
- Place of Presentation
  豊中市
- Year and Date
  2014-04-05
- Data Source
  KAKENHI-PROJECT-24592181
[Presentation] 日本人における全ゲノム間の関連についての網羅的eQTL解析2013
- Author(s)
  宮冬樹, 森園隆, 阿部哲雄, 久保充明, 角田達彦
- Organizer
  日本人類遺伝学会　第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Incompletely reprogrammed human iPSCs form glioma-like tumors through genomic instability during neural differentiation2013
- Author(s)
  Okada Y, Miya, F, Koike M, Tomisato S, Tokura T, Ishihara Y, Shimojo D, Hattori C, Kanematsu D, Kanemura Y, Kohda K, Sobue G, Yamanaka S, Yuzaki M, Uchiyama Y, Ikeda E, Tsunoda T, Okano H
- Organizer
  CiRA International Symoisum 2013, Raising the Nex Generation of Stem Cell Research, Kyoto March 2013, CiRA International Symoisum 2013, Raising the Nex Generation of Stem Cell Research
- Place of Presentation
  Kyoto
- Year and Date
  2013-03-12
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] 全ゲノムシークエンスによる肝臓がんの変異と遺伝的多様性の解析2013
- Author(s)
  藤本明洋, 白石友一, 古田繭子, 後藤邦仁, 中村透, 平野聡, 山本雅一, 山上裕機, 茶山一彰, 宮野悟, 角田達彦
- Organizer
  第72回日本癌学会学術総会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Genome-wide cis-and trans-eQTL analysis using next generation sequencer in Japanese population.2013
- Author(s)
  Fuyuki Miya, Takashi Morizono, Michiaki Kubo, Tatsuhiko Tsunoda
- Organizer
  第36回日本分子生物学会年会
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Whole genome sequencing reveals past population history and signature of natural selection in the Japanese population2013
- Author(s)
  Akihiro Fujimoto, Tetuo Abe, Keith A Boroevich, Kaoru Nakano, Aya Sasaki, Rina Kitada, Hiroko Tanaka, Yusuke Nakamura, Satoru Miyano, Michiaki Kubo, Hidewaki Nakagawa, Tatsuhiko Tsunoda
- Organizer
  American Society of Human Genotics
- Place of Presentation
  Boston, USA
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Comprehensive analysis of genetic variation by whole genome sequencing2013
- Author(s)
  藤本明洋, 十時泰, 宮野悟, 角田逹彦, 柴田龍弘, 中川英刀
- Organizer
  CBI学会2013年大会・生命医薬情報学連合大会
- Place of Presentation
  東京
- Invited
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 肝がん全ゲノム解析から判明した変異のパターンと腫瘍内遺伝的多様性2013
- Author(s)
  藤本明洋, 白石　友一, 古田　繭子, 後藤　邦仁, 中村　透, 平野　聡, 山本　雅一, 山上　裕機, 茶山　一彰, 宮野　悟, 角田　達彦, 中川　英刀
- Organizer
  日本遺伝学会
- Place of Presentation
  横浜
- Invited
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Evaluation of human iPS cells byneural differentiation and tumorigenicity2012
- Author(s)
  Okada Y, Miya F, Tomisato S, Kanemura Y, Koike M, Kohda K, Yuzaki M, Uchiyama Y, Tsunoda T, Yamanaka S, Okano H
- Organizer
  ISSCR 10th annual Meeting
- Place of Presentation
  Yokohama
- Year and Date
  2012-06-15
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] 腎炎明細細胞癌の全ゲノム解析2012
- Author(s)
  奥野友介, 佐藤悠佑, 前川滋克, 佐藤亜以子, 鈴木啓道, 藤本明洋, 白石友一, 千葉健一, 田中洋子, 本間之夫, 角田達彦, 宮野悟, 小川誠司.
- Organizer
  日本癌学会学術総会
- Place of Presentation
  札幌
- Year and Date
  2012-09-19
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 不完全にリプログラミングされたヒトiPS細胞由来神経幹細胞は分化誘導に伴うゲノム不安定化によりグリオーマ様腫瘍を形成する2012
- Author(s)
  岡田洋平、宮冬樹、小池正人、冨里周太、兼松大介、金村米博、幸田和久、柚崎通介、内山安男、池田栄二、角田達彦、山中伸弥、岡野栄之
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡
- Year and Date
  2012-12-12
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] カスタムターゲットリシーケンスによる難聴関連遺伝子の変異探索2012
- Author(s)
  鈴木直大、務台英樹、鳥居千春、清水厚志、宮冬樹、難波一徳、工藤純、小崎健次郎、松永達雄
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル
- Data Source
  KAKENHI-PROJECT-24592573
[Presentation] 次世代シーケンサーを用いた日本人における全ゲノム網羅的eQTL解析2012
- Author(s)
  宮冬樹, 阿部哲雄, 森園隆, 秋山真太郎, 久保充明, 角田達彦
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2012-10-24
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Evaluation of human iPS cells by neural differentiation and tumorigenicity2011
- Author(s)
  Okada Y, Miya F, Kanemura Y, Koike M, Kohda K, Yuzaki M, Uchiyam Y, Tsunoda T, Yamanaka S, Okano H
- Organizer
  8th IBRO World congress of Neuroscience
- Place of Presentation
  Florence, Italy
- Year and Date
  2011-07-16
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] ウイルス性肝細胞がんの全ゲノムシークエンス解析2011
- Author(s)
  中川英刀, 藤本明洋, 角田達彦, 長崎正朗, 柴田龍弘, 十時泰, 上野昌樹, 川上由育, 山田晃正, 茶山一彰, 山上裕機, 宮野悟, 中村祐輔
- Organizer
  日本癌学会学術総会
- Place of Presentation
  名古屋
- Year and Date
  2011-10-04
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 神経分化と造腫瘍性から迫るヒトiPS細胞の品質評価2011
- Author(s)
  岡田洋平、宮冬樹、金村米博、砂堀毅彦、小池正人、幸田和久、柚崎通介、内山安男、角田達彦、山中伸弥、岡野栄之
- Organizer
  第34回日本神経科学大会
- Place of Presentation
  横浜
- Year and Date
  2011-09-17
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] 次世代シークエンサーを用いた日本人一個体の全ゲノムシークエンスと遺伝的多様性の包括的解析2010
- Author(s)
  藤本明洋, 中川英刀, 細野直哉, 中野かおる, 阿部哲雄, 長崎正朗, 山口類, 渋谷哲朗, 久保充明, 宮野悟, 中村祐輔, 角田達彦
- Organizer
  第33回日本分子生物学会年会・第83回日本生化学会大会合同大会(BMB2010)
- Place of Presentation
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 次世代シーケンサーとタイリングアレイの転写解析データの比較検証2010
- Author(s)
  宮冬樹, 岡田洋平, 阿部哲雄, 森園隆, 鎌谷直之, 岡野栄之, 角田達彦
- Organizer
  第33回日本分子生物学会年会・第83回日本生化学会大会合同大会(BMB2010)
- Place of Presentation
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] 国際がんゲノムコンソーシアムにおける情報解析2010
- Author(s)
  藤本明洋, 渋谷哲朗, 宮野悟, 中村祐輔, 中川英刀, 角田達彦
- Organizer
  ゲノムテクノロジー第164委員会第34回研究会
- Place of Presentation
  東京
- Year and Date
  2010-09-10
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Whole genome sequencing and accurate variant calls of a Japanese individual using massively parallel sequencing.2010
- Author(s)
  A.Fujimoto, H.Nakagawa, N.Hosono, K.Nakano, T.Abe, M.Nagasaki, R.Yamaguichi, T.Shibuya, M.Kubo, S.Miyano, Y.Nakamura, T.Tsunoda.
- Organizer
  American Society of Human Genetics 60th Annual Meeting (ASHG 2010)
- Place of Presentation
  Washigton DC, USA
- Year and Date
  2010-11-03
- Data Source
  KAKENHI-PLANNED-22134008
[Presentation] Incompletely reprogrammed human iPSCs form glioma-like tumors through genomic instability during neural differentiation
- Author(s)
  Okada Y, Miya, F, Koike M, Tomisato S, Tokura T, Ishihara Y, Shimojo D, Hattori C, Kanematsu D, Kanemura Y, Kohda K, Sobue G, Yamanaka S, Yuzaki M, Uchiyama Y, Ikeda E, Tsunoda T, Okano H,
- Organizer
  The 11th Stem Cell Research Symposium
- Place of Presentation
  Tokyo
- Invited
- Data Source
  KAKENHI-PROJECT-25640038
[Presentation] Evaluation of human iPS cells by neural differentiation and tumorigenicity
- Author(s)
  Okada Y, Miya F, Tomisato S, Kanemura Y, Koike M, Kohda K, Yuzaki M, Uchiyama Y, Tsunoda T, Yamanaka S, Okano H.
- Organizer
  ISSCR 10th Annual Meeting
- Place of Presentation
  Yokohama, Japan
- Data Source
  KAKENHI-PROJECT-24592181
[Presentation] DBA/2Jマウスのメチオニン・バルプロ酸による難聴進行抑制と候補標的遺伝子の亜鉛トランスポーターZip4
- Author(s)
  務台、宮、藤井、角田、松永
- Organizer
  日本エピジェネティクス研究会第9回年会
- Place of Presentation
  一ツ橋学術総合センター（東京）
- Year and Date
  2015-05-25 – 2015-05-26
- Data Source
  KAKENHI-PROJECT-24592573
[Presentation] Evaluation of human iPS cells by neural differentiation and tumorigenicity.
- Author(s)
  Okada Y, Miya F, et al
- Organizer
  IBRO World congress of Neuroscience
- Place of Presentation
  フィレンツェ（イタリア）
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] 不完全にリプログラミングされたヒトiPS細胞は分化誘導に伴うゲノム不安定化を通してグリオーマ様腫瘍を形成する
- Author(s)
  岡田洋平、宮冬樹、小池正人、冨里周太、戸倉智子、石原康晴、下門大祐、服部千夏、兼松大介、金村米博、幸田和久、祖父江元、山中伸弥、柚崎通介、内山安男、池田栄二、角田達彦、岡野栄之
- Organizer
  第36回日本神経科学大会、第56回日本神経化学会大会、第23回日本神経回路学会大会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-25640038
[Presentation] 神経分化と造腫瘍性から迫るヒトiPS細胞の品質評価
- Author(s)
  岡田洋平、宮冬樹　他
- Organizer
  第34回日本神経科学大会
- Place of Presentation
  パシフィコ横浜（神奈川県）
- Data Source
  KAKENHI-PROJECT-23650194
[Presentation] Attenuation of Progressive Hearing Loss in DBA/2J Mice by Epigenetic-Modifying Reagents Is Associated with Up-Regulation of the Zinc-Importer Zip4 /Slc39a4
- Author(s)
  Mutai, Miya, Fujii, Tsunoda, Matsunaga
- Organizer
  北米耳鼻咽喉科学会第38回年会
- Place of Presentation
  ボルチモア（アメリカ合衆国メリーランド）
- Year and Date
  2015-02-21 – 2015-02-25
- Data Source
  KAKENHI-PROJECT-24592573
[]

1. OKADA Yohei (30383714)

# of Collaborated Projects: 4 results

# of Collaborated Products: 12 results
2. TSUNODA Tatsuhiko (10273468)

# of Collaborated Projects: 3 results

# of Collaborated Products: 27 results
3. MUTAI Hideki (60415891)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
4. KUDOH Jun (80178003)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. MATSUNAGA Tatsuo (90245580)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
6. SUZUKI Naohiro (90611195)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
7. SHIMIZU Atsushi (30327655)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
8. OKANO Hideyuki (60160694)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
9. Kato Mitsuhiro (10292434)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
10. FUJIMOTO Akihiro (30525853)

# of Collaborated Projects: 1 results

# of Collaborated Products: 14 results
11. JOHNSON Todd (90392042)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. NAKAGAWA Hidewaki (50361621)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
13. KANEMURA Yonehiro (80344175)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
14. SHOFUDA Tomoko (40450895)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. SUEMIZU Hiroshi (40332209)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. NAKAMURA Masato (00164335)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. IKADA EIJI (30232177)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
18. YASUDA MUNEYOSHI (10440752)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. Saitoh Shinji (00281824)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. 中村和幸 (20436215)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
21. 加藤洋一 (10815161)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
22. 大石久史 (30375513)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. 嶋田逸誠 (40833265)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
24. 山口敦子 (10346108)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
25. ADACHI Hiroaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. KATO Takahiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. HIROSE Tomonori

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. HARA KAZUO

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. MIYAKE Kunio

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 伊東秀記

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
32. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
33. 水口剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
34. 才津浩智

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
35. 園田康平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 大島裕司

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 13 results
38. TODD・A Johnson

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
39. 小内伸幸

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
40. 樗木俊聡

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 吉川武男

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
42. 加藤忠史

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
43. 豊田知子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
44. 山形崇倫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
45. 岩本由美子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
46. 加藤総夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
47. 笠井清登

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
48. 根本清貴

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
49. 狩野方伸

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
50. 岡戸晴生

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
51. 青木茂樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
52. 饗場篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
53. 倉橋浩樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
54. 緒方一博

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
55. 浜田恵輔

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
56. 田畑秀典

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
57. 城村由和

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
58. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
59. 辻田麻紀

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Miya Fuyuki 宮 冬樹

MIYA Fuyuki 宮 冬樹

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Exploration of longevity-related factors using blood somatic mutation and genomic association analysis in centenariansPrincipal Investigator

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Development and assessment of a pathogenic mutations search method for individuals who are difficult to identify the mutations in standard-exome analysisPrincipal Investigator

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[Journal Article] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome2023

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[Journal Article] A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome2023

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Miya Fuyuki 宮冬樹

MIYA Fuyuki 宮冬樹