Mizuguchi Takeshi 水口剛

… Alternative Names

MIZUGUCHI Takeshi 水口剛

水口剛ミズグチタケシ

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Researcher Number	90404996
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2021 – 2024: 横浜市立大学, 医学部, 准教授 2020: 横浜市立大学, 医学部, 講師 2017 – 2018: 横浜市立大学, 医学部, 講師 2007: Yokohama City University, 医学部, 助教 2006: 横浜市立大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Medium-sized Section 52:General internal medicine and related fields
Keywords	Principal Investigator ロングリードシーケンス / リピート伸長 / 遺伝子 / ゲノム / 遺伝学 / ゲノム高次構造 / DNAメチル化 / ソトス症候群 / Low copy repeats / オミクス … More / 希少疾患 / ゲノム構造異常 / ゲノム構造変化 / 遺伝要因 / リピート病 / Structural variant / てんかん / ロングリードシークエンサー / 全エクソーム解析 / 遺伝子変異 / 次世代シーケンス / マルファン症候群 / Exome-wide 相関解析 / 遺伝医学 / Burden test / Exome / Marfan syndrome / 染色体 Less

非コード領域構造変異に重点をおく稀少遺伝性疾患の遺伝要因と分子病態の解明Principal Investigator
- Principal Investigator
  
  水口剛
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Low copy repeats組換えホットスポットのゲノム・エピゲノム基盤の解明Principal Investigator
- Principal Investigator
  
  水口剛
- Project Period (FY)
  2023 – 2024
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Yokohama City University
Application of long-read sequencing technologies to investigate epilepsy-associated genesPrincipal Investigator
- Principal Investigator
  
  MIZUGUCHI Takeshi
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Exome-wide association study for Marfan syndrome and related disordersPrincipal Investigator
- Principal Investigator
  
  Mizuguchi Takeshi
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
マルファン症候群新規責任遺伝子の探索Principal Investigator
- Principal Investigator
  
  水口剛
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (Start-up)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University

All 2024 2023 2022 2021 2020 2019 2018 2017 2007

All Journal Article Presentation

[Journal Article] Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum2024
- Author(s)
  Higashimoto K., Sun F., Imagawa E., Saida K., Miyake N., Hara S., Yatsuki H., Kubiura-Ichimaru M., Fujita A., Mizuguchi T., Matsumoto N. and Soejima H.
- Journal Title
  
  J Med Genet
  
  Volume: NA Issue: 6 Pages: 590-594
- DOI
  10.1136/jmg-2023-109621
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-20H03643, KAKENHI-PROJECT-23K27568
[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024
- Author(s)
  Utsuno Y., Hamada K., Hamanaka K., Miyoshi K., Tsuchimoto K., Sunada S., Itai T., Sakamoto M., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Miyatake S., Misawa K., Mizuguchi T., Kato Y., Saito K., Ogata K. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 69-77
- DOI
  10.1038/s10038-023-01206-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024
- Author(s)
  Inoue Y., Tsuchida N., Kim C. A., de Oliveira Stephan B., Castro M. A. A., Honjo R. S., Bertola D. R., Uchiyama Y., Hamanaka K., Fujita A., Koshimizu E., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 163-167
- DOI
  10.1038/s10038-024-01219-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024
- Author(s)
  Koshimizu E., Kato M., Misawa K., Uchiyama Y., Tsuchida N., Hamanaka K., Fujita A., Mizuguchi T., Miyatake S. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 153-157
- DOI
  10.1038/s10038-023-01217-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024
- Author(s)
  Sakamoto M., Kurosawa K., Tanoue K., Iwama K., Ishida F., Watanabe Y., Okamoto N., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 85-90
- DOI
  10.1038/s10038-023-01209-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A female case of L1 syndrome that may have developed due to skewed X inactivation2024
- Author(s)
  Mori T., Nakano M., Tayama T., Goji A., Toda Y., Kameyama S., Mizuguchi T., Urushihara M. and Matsumoto N.
- Journal Title
  
  Brain Dev
  
  Volume: NA Issue: 6 Pages: 230-233
- DOI
  10.1016/j.braindev.2024.03.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K27568
[Journal Article] Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up2024
- Author(s)
  Lee G. H., Jung E., Jung N. Y., Mizuguchi T., Matsumoto N. and Kim E. J.
- Journal Title
  
  Front Neurol
  
  Volume: 15 Pages: 1347646-1347646
- DOI
  10.3389/fneur.2024.1347646
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K27568
[Journal Article] Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy2024
- Author(s)
  Matsubara K., Kuki I., Ishioka R., Yamada N., Fukuoka M., Inoue T., Nukui M., Okamoto N., Mizuguchi T., Matsumoto N. and Okazaki S.
- Journal Title
  
  Epileptic Disord
  
  Volume: 26 Issue: 1 Pages: 139-143
- DOI
  10.1002/epd2.20181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K27568
[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] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  Mizuguchi T., Toyota T., Koshimizu E., Kameyama S., Fukuda H., Tsuchida N., Uchiyama Y., Hamanaka K., Fujita A., Misawa K., Miyatake S., Adachi H. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 12 Pages: 875-878
- DOI
  10.1038/s10038-023-01187-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-23K06976, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants2023
- Author(s)
  Kodama K, Aoyama H, Murakami Y, Takanashi JI, Koshimizu E, Miyatake S, Iwama K, Mizuguchi T, Matsumoto N, Omata T.
- Journal Title
  
  Radiol Case Rep
  
  Volume: Jan 12;18(3) Issue: 3 Pages: 1217-1220
- DOI
  10.1016/j.radcr.2022.11.033
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-19K08237
[Journal Article] A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association2023
- Author(s)
  Seyama Rie、Nishikawa Masashi、Ogata Kazuhiro、Nagata Koh-ichi、Matsumoto Naomichi
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 9789-9789
- DOI
  10.1038/s41598-023-36381-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K19498, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K14946, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation2023
- Author(s)
  Mori Tatsuo、Sakamoto Masamune、Tayama Takahiro、Goji Aya、Toda Yoshihiro、Fujita Atsushi、Mizuguchi Takeshi、Urushihara Maki、Matsumoto Naomichi
- Journal Title
  
  Brain and Development
  
  Volume: － Issue: 7 Pages: 395-400
- DOI
  10.1016/j.braindev.2023.03.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy2023
- Author(s)
  Liao Y. C., Wei C. Y., Chang F. P., Chou Y. T., Hsu S. L., Chung C. P., Mizuguchi T., Matsumoto N., Yet S. F. and Lee Y. C.
- Journal Title
  
  Stroke
  
  Volume: 54 Issue: 5 Pages: 1236-1245
- DOI
  10.1161/strokeaha.122.041848
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K27568
[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] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 82023
- Author(s)
  M. Sakamoto, T. Shiiki, S. Matsui, N. Okamoto, E. Koshimizu, N. Tsuchida, Y. Uchiyama, K. Hamanaka, A. Fujita, S. Miyatake, K. Misawa, T. Mizuguchi and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 4 Pages: 247-253
- DOI
  10.1038/s10038-022-01098-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias2023
- Author(s)
  Fukuda H., Mizuguchi T., Doi H., Kameyama S., Kunii M., Joki H., Takahashi T., Komiya H., Sasaki M., Miyaji Y., Ohori S., Koshimizu E., Uchiyama Y., Tsuchida N., Fujita A., Hamanaka K., Misawa K., Miyatake S., Tanaka F. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 10 Pages: 689-697
- DOI
  10.1038/s10038-023-01170-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[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] Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy2023
- Author(s)
  Ohori S., Miyauchi A., Osaka H., Lourenco C. M., Arakaki N., Sengoku T., Ogata K., Honjo R. S., Kim C. A., Mitsuhashi S., Frith M. C., Seyama R., Tsuchida N., Uchiyama Y., Koshimizu E., Hamanaka K., Misawa K., Miyatake S., Mizuguchi T., Saito K., Fujita A. and Matsumoto N.
- Journal Title
  
  Life Sci Alliance
  
  Volume: 6 Issue: 8 Pages: e202302025-e202302025
- DOI
  10.26508/lsa.202302025
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05161, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[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] Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism2023
- Author(s)
  R. Seyama, Y. Uchiyama, Y. Kaneshi, K. Hamanaka, A. Fujita, N. Tsuchida, E. Koshimizu, K. Misawa, S. Miyatake, T. Mizuguchi, S. Makino, A. Itakura, N. Okamoto and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 5 Pages: 363-367
- DOI
  10.1038/s10038-022-01117-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Synchronous heart rate reduction with suppression‐burst pattern in <i>KCNT1</i> ‐related developmental and epileptic encephalopathies2023
- Author(s)
  Yamamoto Kaoru、Baba Shimpei、Saito Takashi、Nakagawa Eiji、Sugai Kenji、Iwasaki Masaki、Fujita Atsushi、Fukuda Hiromi、Mizuguchi Takeshi、Kato Mitsuhiro、Matsumoto Naomichi、Sasaki Masayuki
- Journal Title
  
  Epilepsia Open
  
  Volume: － Issue: 2 Pages: 651-658
- DOI
  10.1002/epi4.12705
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022
- Author(s)
  Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
- Journal Title
  
  npj Genomic Medicine
  
  Volume: 7 Issue: 1 Pages: 62-62
- DOI
  10.1038/s41525-022-00331-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype2022
- Author(s)
  Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
- Journal Title
  
  Genomics
  
  Volume: 114 Issue: 5 Pages: 110469-110469
- DOI
  10.1016/j.ygeno.2022.110469
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion2022
- Author(s)
  Yamada Hiroyuki、Okanishi Tohru、Okazaki Tetsuya、Oguri Masayoshi、Fukuda Hiromi、Uchiyama Yuri、Mizuguchi Takeshi、Matsumoto Naomichi、Maegaki Yoshihiro
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 1 Pages: 68-72
- DOI
  10.1016/j.braindev.2021.07.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17362, KAKENHI-PROJECT-20K08164
[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] Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy2022
- Author(s)
  Liu Yi Hong、Chou Ying Tsen、Chang Fu Pang、Lee Wei Ju、Guo Yuh Cherng、Chou Cheng Ta、Huang Hui Chun、Mizuguchi Takeshi、Chou Chien Chen、Yu Hsiang Yu、Yu Kai Wei、Wu Hsiu Mei、Tsai Pei Chien、Matsumoto Naomichi、Lee Yi Chung、Liao Yi Chu
- Journal Title
  
  Brain
  
  Volume: 145 Issue: 9 Pages: 3010-3021
- DOI
  10.1093/brain/awac135
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164
[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] Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome2022
- Author(s)
  Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y.
- Journal Title
  
  Hum Mutat
  
  Volume: 43 Issue: 1 Pages: 3-15
- DOI
  10.1002/humu.24287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08279, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20H03636
[Journal Article] Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions2022
- Author(s)
  Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto Y, Nishino I, Yoshihashi H, Takeshi Mizuguchi T, Matsumoto N, Egawa N, Kawata A, Isozaki E.
- Journal Title
  
  Intern. Med.
  
  Volume: 61 Issue: 4 Pages: 547-552
- DOI
  10.2169/internalmedicine.7767-21
- NAID
  130008159893
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2022-02-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03939, KAKENHI-PROJECT-20K07883, KAKENHI-PROJECT-20K08164
[Journal Article] Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease2022
- Author(s)
  Jung Na-Yeon、Lee Hyun Jung、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Clinical Neurology
  
  Volume: 18 Issue: 3 Pages: 358-358
- DOI
  10.3988/jcn.2022.18.3.358
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164
[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] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome2022
- Author(s)
  Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: Sep;114(5) Issue: 5 Pages: 110468-110468
- DOI
  10.1016/j.ygeno.2022.110468
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907
[Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant2022
- Author(s)
  Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 2 Pages: 283-293
- DOI
  10.1007/s00439-021-02416-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17936
[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] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms2021
- Author(s)
  Seyama Rie、Tsuchida Naomi、Okada Yasuyuki、Sakata Sonoko、Hamada Keisuke、Azuma Yoshiteru、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Makino Shintaro、Itakura Atsuo、Okada Satoshi、Okamoto Nobuhiko、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 3 Pages: 157-164
- DOI
  10.1038/s10038-021-00986-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051
[Journal Article] Intellectual disability and microcephaly associated with a novel CHAMP1 mutation2021
- Author(s)
  Asakura Yuta、Osaka Hitoshi、Aoi Hiromi、Mizuguchi Takeshi、Matsumoto Naomichi、Yamagata Takanori
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 34-34
- DOI
  10.1038/s41439-021-00165-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08164
[Journal Article] Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency2021
- Author(s)
  Morita Atsushi、Enokizono Takashi、Ohto Tatsuyuki、Tanaka Mai、Watanabe Shiena、Takada Yui、Iwama Kazuhiro、Mizuguchi Takeshi、Matsumoto Naomichi、Morita Masashi、Takashima Shigeo、Shimozawa Nobuyuki、Takada Hidetoshi
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 3 Pages: 475-481
- DOI
  10.1016/j.braindev.2020.10.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08271, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03613
[Journal Article] Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant2021
- Author(s)
  Sakurai Yoshie、Watanabe Tatsuya、Abe Yuki、Nawa Tatsuro、Uchida Toshihiko、Aoi Hiromi、Mizuguchi Takeshi、Matsumoto Naomichi、Haginoya Kazuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 8 Pages: 863-866
- DOI
  10.1016/j.braindev.2021.04.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder2021
- Author(s)
  Ohori Sachiko、Tsuburaya Rie S.、Kinoshita Masako、Miyagi Etsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Frith Martin C.、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 7 Pages: 697-705
- DOI
  10.1038/s10038-020-00893-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] Novel CLTC variants cause new brain and kidney phenotypes2021
- Author(s)
  Itai Toshiyuki、Miyatake Satoko、Tsuchida Naomi、Saida Ken、Narahara Sho、Tsuyusaki Yu、Castro Matheus Augusto Araujo、Kim Chong Ae、Okamoto Nobuhiko、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 1 Pages: 1-7
- DOI
  10.1038/s10038-021-00957-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies2021
- Author(s)
  Liao Yi-Chu、Chang Fu-Pang、Huang Han-Wei、Chen Ting-Bing、Chou Ying-Tsen、Hsu Shao-Lun、Jih Kang-Yang、Liu Yi-Hong、Hsiao Cheng-Tsung、Fukukda Hiromi、Mizuguchi Takeshi、Lin Kon-Ping、Lin Chou-Ching K.、Matsumoto Naomichi、Kennerson Marina、Lee Yi-Chung
- Journal Title
  
  Neurology
  
  Volume: 98 Issue: 2
- DOI
  10.1212/wnl.0000000000013008
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164
[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] 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] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing2021
- Author(s)
  Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
- Journal Title
  
  Clin Epigenetics
  
  Volume: 13 Issue: 1 Pages: 204-204
- DOI
  10.1186/s13148-021-01192-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K21400, KAKENHI-PUBLICLY-20H05370, KAKENHI-PUBLICLY-21H00207, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-19K07250, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-19KK0183
[Journal Article] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction2021
- Author(s)
  den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, HB, Itai T, Jackson A, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Kleefstra T, Reymond A, Fisher SE, Vissers LELM et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 108 Issue: 2 Pages: 346-356
- DOI
  10.1016/j.ajhg.2021.01.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021
- Author(s)
  Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 42 Issue: 1 Pages: 66-76
- DOI
  10.1002/humu.24130
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[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] Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita2021
- Author(s)
  Otoshi Ryota、Baba Tomohisa、Shintani Ryota、Kitamura Hideya、Yamaguchi Yukie、Hamanoue Haruka、Mizuguchi Takeshi、Matsumoto Naomichi、Okudela Koji、Takemura Tamiko、Ogura Takashi
- Journal Title
  
  Intern. Med.
  
  Volume: 60 Issue: 8 Pages: 1257-1263
- DOI
  10.2169/internalmedicine.5143-20
- NAID
  130008025069
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2021-04-15
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[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] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation2021
- Author(s)
  Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
- Journal Title
  
  Front Cell Dev Biol.
  
  Volume: 9 Pages: 631428-631428
- DOI
  10.3389/fcell.2021.631428
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-20H00539
[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] 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] Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features2021
- Author(s)
  Kameyama Shinichi、Mizuguchi Takeshi、Fukuda Hiromi、Moey Lip Hen、Keng Wee Teik、Okamoto Nobuhiko、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 3 Pages: 169-173
- DOI
  10.1038/s10038-021-00978-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy2021
- Author(s)
  Parenti Ilaria、Lehalle Daphn、Nava Caroline、Torti Erin、Leito Elsa、Person Richard、Mizuguchi Takeshi、others、Depienne Christel、Mignot Cyril
- Journal Title
  
  Human Genetics
  
  Volume: 140 Issue: 7 Pages: 1109-1120
- DOI
  10.1007/s00439-021-02283-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] <i>De novo ARF3</i> 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] ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children2021
- Author(s)
  Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T and Matsumoto N
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: 63 Issue: 1 Pages: 111-115
- DOI
  10.1111/dmcn.14666
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] Clinical and genetic characteristics of patients with Doose syndrome2020
- Author(s)
  Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
- Journal Title
  
  Epilepsia Open
  
  Volume: 5 Issue: 3 Pages: 442-450
- DOI
  10.1002/epi4.12417
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[Journal Article] Nonsense variants of STAG2 result in distinct congenital anomalies2020
- Author(s)
  Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S and Matsumoto N
- Journal Title
  
  Hum Genome Var
  
  Volume: 7 Issue: 1 Pages: 26-26
- DOI
  10.1038/s41439-020-00114-w
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant2020
- Author(s)
  Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T and Matsumoto N
- Journal Title
  
  Neurol Genet
  
  Volume: 6 Issue: 6
- DOI
  10.1212/nxg.0000000000000527
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
[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] 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] 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] 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] KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report2020
- Author(s)
  Takase C, Shirai K, Matsumura Y, Watanabe T, Watanabe A, Hirasawa-Inoue A, Mizuguchi T, Matsumoto N, Sugai K and Hayashi M
- Journal Title
  
  Brain Dev
  
  Volume: 42 Issue: 8 Pages: 607-611
- DOI
  10.1016/j.braindev.2020.05.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164
[Journal Article] Whole exome sequencing of fetal structural anomalies detected by ultrasonography2020
- Author(s)
  Aoi Hiromi、Mizuguchi Takeshi、Suzuki Toshifumi、Makino Shintaro、Yamamoto Yuka...Takata Atsushi、Miyake Noriko、Takeda Satoru、Itakura Atsuo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 5 Pages: 499-507
- DOI
  10.1038/s10038-020-00869-8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-20K08164
[Journal Article] Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy"2020
- Author(s)
  Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N and Tanaka F
- Journal Title
  
  Ann Neurol
  
  Volume: 88 Issue: 3 Pages: 642-643
- DOI
  10.1002/ana.25819
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K16581, KAKENHI-PROJECT-18K07503
[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] 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] Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation2019
- Author(s)
  Okamoto Nobuhiko、Arai Hiroshi、Onishi Toshikazu、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 1 Pages: 40-41
- DOI
  10.1111/cga.12330
- NAID
  210000012756
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539
[Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing2019
- Author(s)
  Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: - Issue: 6 Pages: 396-407
- DOI
  10.1136/jmedgenet-2018-105775
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18K15692, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration2019
- Author(s)
  Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 印刷中 Issue: 14 Pages: 2319-2329
- DOI
  10.1093/hmg/ddz066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing2019
- Author(s)
  Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 5 Pages: 359-368
- DOI
  10.1038/s10038-019-0569-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539
[Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE212019
- Author(s)
  Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 347-350
- DOI
  10.1038/s10038-018-0556-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation2019
- Author(s)
  Matsumoto Ayumi、Nagashima Masako、Iwama Kazuhiro、Mizuguchi Takeshi、Makino Shinji、Ikeda Takahiro、Muramatsu Kazuhiro、Matsumoto Naomichi、Yamagata Takanori、Osaka Hitoshi
- Journal Title
  
  Brain and Development
  
  Volume: 印刷中 Issue: 8 Pages: 726-730
- DOI
  10.1016/j.braindev.2019.04.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17K16279
[Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads2019
- Author(s)
  Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
- Journal Title
  
  Genome Biology
  
  Volume: 20 Issue: 1 Pages: 58-58
- DOI
  10.1186/s13059-019-1667-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09683, KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] Nonsense variants in STAG2 result in distinct sex-dependent phenotypes2019
- Author(s)
  Aoi Hiromi、Lei Ming、Mizuguchi Takeshi、Nishioka Nobuko、Goto Tomohide、Miyama Sahoko、Suzuki Toshifumi、Iwama Kazuhiro、Uchiyama Yuri、Mitsuhashi Satomi、Itakura Atsuo、Takeda Satoru、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 5 Pages: 487-492
- DOI
  10.1038/s10038-019-0571-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K15630
[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] Novel SUZ12 mutations in Weaver-like syndrome2018
- Author(s)
  Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 5 Pages: 461-466
- DOI
  10.1111/cge.13415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy2018
- Author(s)
  Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Mutation
  
  Volume: 39 Issue: 8 Pages: 1070-1075
- DOI
  10.1002/humu.23550
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] 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] PRUNE1-related disorder: Expanding the clinical spectrum2018
- Author(s)
  Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 3-4 Pages: 362-367
- DOI
  10.1111/cge.13385
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] 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] 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] GRIN2D variants in three cases of developmental and epileptic encephalopathy2018
- Author(s)
  Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 538-547
- DOI
  10.1111/cge.13454
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A 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] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 12 Pages: 1223-1229
- DOI
  10.1038/s10038-018-0516-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] 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] Biallelic COLGALT1 variants are associated with cerebral small vessel disease2018
- Author(s)
  Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 843-853
- DOI
  10.1002/ana.25367
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia2018
- Author(s)
  Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 10 Pages: 1049-1054
- DOI
  10.1038/s10038-018-0488-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
- Journal Title
  
  Genetics in Medicine
  
  Volume: - Issue: 7 Pages: 1629-1638
- DOI
  10.1038/s41436-018-0360-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-18K15370
[Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases2018
- Author(s)
  Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 3 Pages: 191-197
- DOI
  10.1038/s10038-018-0551-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl2018
- Author(s)
  Yuge K, Iwama K, Yonee C,--Matsuishi T
- Journal Title
  
  Brain Dev
  
  Volume: 40 Issue: 6 Pages: 493-497
- DOI
  10.1016/j.braindev.2018.02.002
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630
[Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria2018
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 1 Pages: 159-161
- DOI
  10.1002/ana.25256
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] SOFT syndrome in a patient from Chile2018
- Author(s)
  Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 3 Pages: 338-340
- DOI
  10.1002/ajmg.a.61015
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia2018
- Author(s)
  Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 548-553
- DOI
  10.1111/cge.13423
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07809, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales2018
- Author(s)
  Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 2 Pages: 274-275
- DOI
  10.1111/cge.13369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies2018
- Author(s)
  Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27 Issue: 3 Pages: 378-383
- DOI
  10.1038/s41431-018-0289-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] 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] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
- Author(s)
  Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
- Journal Title
  
  Human Mutation
  
  Volume: 印刷中 Issue: 6 Pages: 637-648
- DOI
  10.1002/humu.23200
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H06533, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05198, KAKENHI-PROJECT-16H05357
[Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia2017
- Author(s)
  Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
- Journal Title
  
  British Journal of Haematology
  
  Volume: 印刷中 Issue: 6 Pages: 843-847
- DOI
  10.1111/bjh.14710
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293
[Journal Article] A 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] 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] 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] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 100 Issue: 1 Pages: 169-178
- DOI
  10.1016/j.ajhg.2016.11.017
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H03293
[Journal Article] 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] 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] 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] 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] 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] Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.2007
- Author(s)
  水口剛
- Journal Title
  
  Journal of Human Genetics 52
  
  Pages: 1-12
- NAID
  10018514821
- Data Source
  KAKENHI-PROJECT-18890154
[Presentation] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  水口剛
- Organizer
  日本人類遺伝学会　第68回大会
- Data Source
  KAKENHI-PROJECT-23K27568
[Presentation] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  水口剛
- Organizer
  第68回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-23K18278
[Presentation] Applications of long-read sequencing technologies (LRS) in neurological and muscular diseases2022
- Author(s)
  水口　剛
- Organizer
  日本人類遺伝学会第67回大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K08164
[Presentation] ロングリードシーケンサーを用いた疾患ゲノム・DNAメチル化解析2022
- Author(s)
  水口　剛
- Organizer
  第29回臨床細胞遺伝学セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-20K08164
[Presentation] ターゲットロングリードシーケンスを用いたリピート伸長変異解析2020
- Author(s)
  水口剛
- Organizer
  日本人類遺伝学会第65回大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K08164
[Presentation] Identifying Pathogenic Structural Variant in Unresolved Case of Epilepsy from PacBio Long-read WGS2019
- Author(s)
  水口　剛
- Organizer
  Human Genome Meeting 2019
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630
[Presentation] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders2018
- Author(s)
  水口　剛
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K15630

1. SENGOKU Kazuo

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. ISHI Shunsuke

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# of Collaborated Products: 3 results
3. FUJITA atushi

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# of Collaborated Products: 4 results
4. MATSUMOTO Naomichi

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# of Collaborated Products: 7 results
5. HAYABUCHI Yasunobu

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# of Collaborated Products: 1 results
6. ADACHI Hiroaki

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7. KATOH-FUKUI Yuko

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# of Collaborated Products: 1 results
8. TANAKA Kiyoji

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9. Matsumoto Ayumi

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10. KINO Yoshihiro

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11. HIROSE Tomonori

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12. 宮武聡子

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# of Collaborated Products: 33 results
13. 山形崇倫

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# of Collaborated Products: 2 results
14. 宮本敏伸

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15. 今川英里

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16. 高田篤

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17. 守田雅志

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18. 緒方一博

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19. 土井宏

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20. 大栗聖由

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21. 青戸一司

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22. 永田浩一

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23. 加藤光広

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24. 三橋里美

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25. 今村江里子(輿水江里子)

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26. 倉橋宏和

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27. 三宅紀子

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28. 新海陽一

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29. 豊田知子

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30. 鶴崎美徳

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31. 浜田恵輔

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32. 斉藤伸治

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33. 松石豊次郎

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34. 新田陽平

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35. 才津浩智

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Mizuguchi Takeshi 水口 剛

MIZUGUCHI Takeshi 水口 剛

水口 剛 ミズグチ タケシ

Research Projects

Research Products

Co-Researchers

非コード領域構造変異に重点をおく稀少遺伝性疾患の遺伝要因と分子病態の解明Principal Investigator

Principal Investigator

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Low copy repeats組換えホットスポットのゲノム・エピゲノム基盤の解明Principal Investigator

Principal Investigator

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Review Section

Research Institution

Application of long-read sequencing technologies to investigate epilepsy-associated genesPrincipal Investigator

Principal Investigator

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Review Section

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Exome-wide association study for Marfan syndrome and related disordersPrincipal Investigator

Principal Investigator

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Research Institution

マルファン症候群新規責任遺伝子の探索Principal Investigator

Principal Investigator

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Research Institution

[Journal Article] Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum2024

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DOI

Data Source

[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024

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[Journal Article] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024

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[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024

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[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024

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[Journal Article] A female case of L1 syndrome that may have developed due to skewed X inactivation2024

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[Journal Article] Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up2024

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[Journal Article] Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy2024

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[Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder2023

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Mizuguchi Takeshi 水口剛

MIZUGUCHI Takeshi 水口剛

水口剛ミズグチタケシ