Basic Information

Email Address

• Email Address

  hamanaka.kohei.2ckyoto-u.ac.jp

Academic Degree

• 25 Jul. 2016

  京都大学博士（医学）

Academic Resume (Undergraduate School/Majors)

• 京都大学, 医学部医学科, 卒業

Profile

• Profile

  平成２４年４月　京都大学大学院医学研究科　博士課程（医学専攻＜臨床神経学分野＞）

  
  

  　　　　　　　　（出向先：国立精神・神経医療研究センター　神経研究所　疾病研究第一部）

  
  

  平成２８年４月　国立精神・神経医療研究センター　神経研究所　疾病研究第一部　研究員

  
  

  平成２９年１月　横浜市立大学大学院医学研究科　環境分子医科学（遺伝学）研究員

  
  

  令和　２年７月　横浜市立大学大学院医学研究科　環境分子医科学（遺伝学）助教

  
  

  令和　５年４月　京都大学　高等研究院　ヒト生物学高等研究拠点　システムゲノム医学　特定助教

  
  

  令和　７年４月　横浜市立大学大学院医学研究科　環境分子医科学（遺伝学）講師

  
  

  　　　　　　　　京都大学　高等研究院　ヒト生物学高等研究拠点　システムゲノム医学　特任講師

  
  

  現在に至る

ID,URL

• J-Global ID

  201801009281132810

researchmap URL

• https://researchmap.jp/hamanaka193

Research

Research Topics, Overview of the research

• Research Topics

  To investigate the role of tandem repeats in the regulation of gene expression and in human disease pathogenesis.

• Overview of the research

  Macro (not micro) satellite repeats are DNA sequences that are tandemly repeated twice or more with units of larger than 1 kb and typically spanning hundreds of kilobases. Variations in the size of certain macrosatellite repeat arrays have been linked to gene expression levels in cis and the development of diseases. Despite their biological and medical importance, no effort has been made to systematically identify macrosatellite repeats associated with gene expression and to examine their roles in diseases. To address this, I plan to perform 1) a expression quantitative trait loci (eQTL) analysis using genome and transcriptome datasets of human populations and 2) a phenome-wide association analysis using biobank datasets. This study will aid in the genetic diagnosis of diseases of unknown aetiology and the advancement of precision medicine in the future.

Research Interests

• Repeat expansion disease
• Muscle pathology
• Facioscapulohumeral muscular dystrophy
• Functional genomics
• Omics
• Next generation sequencing
• genetics

Research Areas

• Life sciences, Genetics

Papers

• Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

  Takeshi Mizuguchi; Nobuhiko Okamoto; Taiki Hara; Naoto Nishimura; Masamune Sakamoto; Li Fu; Yuri Uchiyama; Naomi Tsuchida; Kohei Hamanaka; Eriko Koshimizu; Atsushi Fujita; Kazuharu Misawa; Kazuhiko Nakabayashi; Satoko Miyatake; Naomichi Matsumoto

  Clinical epigenetics, 18 Feb. 2025

  
• Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese

  Satoko Miyatake; Hiroshi Doi; Hiroaki Yaguchi; Eriko Koshimizu; Naoki Kihara; Tomoyasu Matsubara; Yasuko Mori; Kenjiro Kunieda; Yusaku Shimizu; Tomoko Toyota; Shinichi Shirai; Masaaki Matsushima; Masaki Okubo; Taishi Wada; Misako Kunii; Ken Johkura; Ryosuke Miyamoto; Yusuke Osaki; Takabumi Miyama; Mai Satoh; Atsushi Fujita; Yuri Uchiyama; Naomi Tsuchida; Kazuharu Misawa; Kohei Hamanaka; Haruka Hamanoue; Takeshi Mizuguchi; Hiroyuki Morino; Yuishin Izumi; Takayoshi Shimohata; Kunihiro Yoshida; Hiroaki Adachi; Fumiaki Tanaka; Ichiro Yabe; Naomichi Matsumoto

  Journal of Neurology, Neurosurgery & Psychiatry, 30 May 2024

  
• A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.

  Shinji Masuko; Mitsuto Sato; Katsuya Nakamura; Kohei Hamanaka; Satoko Miyatake; Yuji Inaba; Tomoki Kosho; Naomichi Matsumoto; Yoshiki Sekijima

  Molecular genetics & genomic medicine, Nov. 2024

  
• 軽度知的障害を合併したATL1遺伝子のp.Arg239Cysによる遺伝性痙性対麻痺の1例

  峯村 はる香; 山岸 裕和; 小坂 仁; 渡邉 英明; 濱中 耕平; 宮武 聡子; 松本 直通; 田島 敏広

  小児科, Feb. 2024

  
• Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.

  Rie Tsuburaya-Suzuki; Sachiko Ohori; Kohei Hamanaka; Atsushi Fujita; Naomichi Matsumoto; Masako Kinoshita

  Frontiers in genetics, 2024

  
• Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

  Sachiko Ohori; Hironao Numabe; Satomi Mitsuhashi; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Fujita; Naomichi Matsumoto

  Genomics, 15 Jul. 2024

  
• Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.

  Naoto Sugeno; Satoko Kumada; Hirofumi Kashii; Jun Ikezawa; Toshitaka Kawarai; Takaaki Nakamura; Ako Miyata; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Hutoshi Sekiguchi; Kohei Hamanaka; Satoko Miyatake; Noriko Miyake; Naomichi Matsumoto; Hiroyuki Akagawa; Kenjiro Kosaki; Hiroshi Yoshihashi; Takafumi Hasegawa; Masashi Aoki

  Parkinsonism & related disorders, 27 May 2024

  
• Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

  Yuta Inoue; Naomi Tsuchida; Chong Ae Kim; Bruno de Oliveira Stephan; Matheus Augusto Araujo Castro; Rachel Sayuri Honjo; Debora Romeo Bertola; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto

  Journal of human genetics, 17 Jan. 2024

  
• Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.

  Eriko Koshimizu; Mitsuhiro Kato; Kazuharu Misawa; Yuri Uchiyama; Naomi Tsuchida; Kohei Hamanaka; Atsushi Fujita; Takeshi Mizuguchi; Satoko Miyatake; Naomichi Matsumoto

  Journal of human genetics, 12 Jan. 2024

  
• Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

  Yasuhiro Utsuno; Keisuke Hamada; Kohei Hamanaka; Keita Miyoshi; Keiji Tsuchimoto; Satoshi Sunada; Toshiyuki Itai; Masamune Sakamoto; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Atsushi Fujita; Satoko Miyatake; Kazuharu Misawa; Takeshi Mizuguchi; Yasuhito Kato; Kuniaki Saito; Kazuhiro Ogata; Naomichi Matsumoto

  Journal of human genetics, 27 Nov. 2023

  
• Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.

  Takeshi Mizuguchi; Tomoko Toyota; Eriko Koshimizu; Shinichi Kameyama; Hiromi Fukuda; Naomi Tsuchida; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Kazuharu Misawa; Satoko Miyatake; Hiroaki Adachi; Naomichi Matsumoto

  Journal of human genetics, 18 Aug. 2023

  
• Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

  Hiromi Fukuda; Takeshi Mizuguchi; Hiroshi Doi; Shinichi Kameyama; Misako Kunii; Hideto Joki; Tatsuya Takahashi; Hiroyasu Komiya; Mei Sasaki; Yosuke Miyaji; Sachiko Ohori; Eriko Koshimizu; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Kohei Hamanaka; Kazuharu Misawa; Satoko Miyatake; Fumiaki Tanaka; Naomichi Matsumoto

  Journal of human genetics, 12 Jun. 2023

  
• A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

  Rie Seyama; Masashi Nishikawa; Yuri Uchiyama; Keisuke Hamada; Yuka Yamamoto; Masahiro Takeda; Takanori Ochi; Monami Kishi; Toshifumi Suzuki; Kohei Hamanaka; Atsushi Fujita; Naomi Tsuchida; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Shintaro Makino; Takashi Yao; Hidenori Ito; Atsuo Itakura; Kazuhiro Ogata; Koh-ichi Nagata; Naomichi Matsumoto

  Scientific Reports, 16 Jun. 2023

  
• Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy

  Sachiko Ohori; Akihiko Miyauchi; Hitoshi Osaka; Charles Marques Lourenco; Naohiro Arakaki; Toru Sengoku; Kazuhiro Ogata; Rachel Sayuri Honjo; Chong Ae Kim; Satomi Mitsuhashi; Martin C Frith; Rie Seyama; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Kuniaki Saito; Atsushi Fujita; Naomichi Matsumoto

  Life Science Alliance, 07 Jun. 2023

  
• An integrated genetic analysis of epileptogenic brain malformed lesions

  Atsushi Fujita; Mitsuhiro Kato; Hidenori Sugano; Yasushi Iimura; Hiroharu Suzuki; Jun Tohyama; Masafumi Fukuda; Yosuke Ito; Shimpei Baba; Tohru Okanishi; Hideo Enoki; Ayataka Fujimoto; Akiyo Yamamoto; Kentaro Kawamura; Shinsuke Kato; Ryoko Honda; Tomonori Ono; Hideaki Shiraishi; Kiyoshi Egawa; Kentaro Shirai; Shinji Yamamoto; Itaru Hayakawa; Hisashi Kawawaki; Ken Saida; Naomi Tsuchida; Yuri Uchiyama; Kohei Hamanaka; Satoko Miyatake; Takeshi Mizuguchi; Mitsuko Nakashima; Hirotomo Saitsu; Noriko Miyake; Akiyoshi Kakita; Naomichi Matsumoto

  Acta Neuropathologica Communications, 02 Mar. 2023

  
• Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.

  Kohei Hamanaka; Daisuke Yamauchi; Eriko Koshimizu; Kei Watase; Kaoru Mogushi; Kinya Ishikawa; Hidehiro Mizusawa; Naomi Tsuchida; Yuri Uchiyama; Atsushi Fujita; Kazuharu Misawa; Takeshi Mizuguchi; Satoko Miyatake; Naomichi Matsumoto

  Genome research, Mar. 2023

  
• A novel NONO variant that causes developmental delay and cardiac phenotypes

  Toshiyuki Itai; Atsushi Sugie; Yohei Nitta; Ryuto Maki; Takashi Suzuki; Yoichi Shinkai; Yoshihiro Watanabe; Yusuke Nakano; Kazushi Ichikawa; Nobuhiko Okamoto; Yasuhiro Utsuno; Eriko Koshimizu; Atsushi Fujita; Kohei Hamanaka; Yuri Uchiyama; Naomi Tsuchida; Noriko Miyake; Kazuharu Misawa; Takeshi Mizuguchi; Satoko Miyatake; Naomichi Matsumoto

  Scientific Reports, 18 Jan. 2023

  
• Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.

  Rie Seyama; Yuri Uchiyama; Yosuke Kaneshi; Kohei Hamanaka; Atsushi Fujita; Naomi Tsuchida; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Shintaro Makino; Atsuo Itakura; Nobuhiko Okamoto; Naomichi Matsumoto

  Journal of human genetics, 12 Jan. 2023

  
• Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants

  Yuta Inoue; Naomi Tsuchida; Nobuhiko Okamoto; Shimakawa Shuichi; Kei Ohashi; Shinji Saitoh; Atsushi Ogawa; Keisuke Hamada; Masamune Sakamoto; Noriko Miyake; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Satoko Miyatake; Takeshi Mizuguchi; Kazuhiro Ogata; Yuri Uchiyama; Naomichi Matsumoto

  Clinical Genetics, 07 Jan. 2023

  
• A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

  Masamune Sakamoto; Toshihide Shiiki; Shuji Matsui; Nobuhiko Okamoto; Eriko Koshimizu; Naomi Tsuchida; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Satoko Miyatake; Kazuharu Misawa; Takeshi Mizuguchi; Naomichi Matsumoto

  Journal of human genetics, 13 Dec. 2022

  
• [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].

  Kenju Hara; Haruka Ouchi; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto

  Rinsho shinkeigaku = Clinical neurology, 26 Nov. 2022

  
• Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

  Masamune Sakamoto; Kazuhiro Iwama; Masayuki Sasaki; Akihiko Ishiyama; Hirofumi Komaki; Takashi Saito; Eri Takeshita; Yuko Shimizu-Motohashi; Kazuhiro Haginoya; Tomoko Kobayashi; Tomohide Goto; Yu Tsuyusaki; Mizue Iai; Kenji Kurosawa; Hitoshi Osaka; Jun Tohyama; Yu Kobayashi; Nobuhiko Okamoto; Yume Suzuki; Satoko Kumada; Kenji Inoue; Hideaki Mashimo; Atsuko Arisaka; Ichiro Kuki; Harumi Saijo; Kenji Yokochi; Mitsuhiro Kato; Yuji Inaba; Yuko Gomi; Shinji Saitoh; Kentaro Shirai; Masafumi Morimoto; Yuishin Izumi; Yoriko Watanabe; Shin-Ichiro Nagamitsu; Yasunari Sakai; Shinobu Fukumura; Kazuhiro Muramatsu; Tomomi Ogata; Keitaro Yamada; Keiko Ishigaki; Kyoko Hirasawa; Konomi Shimoda; Manami Akasaka; Kosuke Kohashi; Takafumi Sakakibara; Masashi Ikuno; Noriko Sugino; Takahiro Yonekawa; Semra Gürsoy; Tayfun Cinleti; Chong Ae Kim; Keng Wee Teik; Chan Mei Yan; Muzhirah Haniffa; Chihiro Ohba; Shuuichi Ito; Hirotomo Saitsu; Ken Saida; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Atsushi Fujita; Kohei Hamanaka; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Noriko Miyake; Naomichi Matsumoto

  Genetics in medicine : official journal of the American College of Medical Genetics, 28 Oct. 2022

  
• Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

  Satoko Miyatake; Eriko Koshimizu; Atsushi Fujita; Hiroshi Doi; Masaki Okubo; Taishi Wada; Kohei Hamanaka; Naohisa Ueda; Hitaru Kishida; Gaku Minase; Atsuhiro Matsuno; Minori Kodaira; Katsuhisa Ogata; Rumiko Kato; Atsuhiko Sugiyama; Ayako Sasaki; Takabumi Miyama; Mai Satoh; Yuri Uchiyama; Naomi Tsuchida; Haruka Hamanoue; Kazuharu Misawa; Kiyoshi Hayasaka; Yoshiki Sekijima; Hiroaki Adachi; Kunihiro Yoshida; Fumiaki Tanaka; Takeshi Mizuguchi; Naomichi Matsumoto

  npj Genomic Medicine, 26 Oct. 2022

  
• Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

  Ken Saida; Reza Maroofian; Toru Sengoku; Tadahiro Mitani; Alistair T. Pagnamenta; Dana Marafi; Maha S. Zaki; Thomas J. O’Brien; Ehsan Ghayoor Karimiani; Rauan Kaiyrzhanov; Marina Takizawa; Sachiko Ohori; Huey Yin Leong; Gulsen Akay; Hamid Galehdari; Mina Zamani; Ratna Romy; Christopher J. Carroll; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Hadis Malek; Najmeh Ahangari; Hoda Tomoum; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; David Murphy; Natalia Dominik; Hasnaa M. Elbendary; Karima Rafat; Sanem Yilmaz; Seda Kanmaz; Mine Serin; Deepa Krishnakumar; Alice Gardham; Anna Maw; Tekki Sreenivasa Rao; Sarah Alsubhi; Myriam Srour; Daniela Buhas; Tamison Jewett; Rachel E. Goldberg; Hanan Shamseldin; Eirik Frengen; Doriana Misceo; Petter Strømme; José Ricardo Magliocco Ceroni; Chong Ae Kim; Gozde Yesil; Esma Sengenc; Serhat Guler; Mariam Hull; Mered Parnes; Dilek Aktas; Banu Anlar; Yavuz Bayram; Davut Pehlivan; Jennifer E. Posey; Shahryar Alavi; Seyed Ali Madani Manshadi; Hamad Alzaidan; Mohammad Al-Owain; Lama Alabdi; Ferdous Abdulwahab; Futoshi Sekiguchi; Kohei Hamanaka; Atsushi Fujita; Yuri Uchiyama; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Reem M. Elshafie; Kamran Salayev; Ulviyya Guliyeva; Fowzan S. Alkuraya; Joseph G. Gleeson; Kristin G. Monaghan; Katherine G. Langley; Hui Yang; Mahsa Motavaf; Saeid Safari; Mozhgan Alipour; Kazuhiro Ogata; André E.X. Brown; James R. Lupski; Henry Houlden; Naomichi Matsumoto

  Genetics in Medicine, Oct. 2022

  
• Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.

  Shinichi Kameyama; Takeshi Mizuguchi; Hiroshi Doi; Shigeru Koyano; Masaki Okubo; Mikiko Tada; Hiroshi Shimizu; Hiromi Fukuda; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Atsushi Fujita; Kazuharu Misawa; Satoko Miyatake; Kazuaki Kanai; Fumiaki Tanaka; Naomichi Matsumoto

  Genomics, 27 Aug. 2022

  
• Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

  Rie Seyama; Yuri Uchiyama; José Ricard Magliocco Ceroni; Veronica Eun Hue Kim; Isabel Furquim; Rachel Sayuri Honjo; Matheus Augusto Araujo Castro; Lucas Vieira Lacerda Pires; Hiromi Aoi; Kazuhiro Iwama; Kohei Hamanaka; Atsushi Fujita; Naomi Tsuchida; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Shintaro Makino; Atsuo Itakura; Débora R Bertola; Chong Ae Kim; Naomichi Matsumoto

  Genomics, 27 Aug. 2022

  
• 意識障害と原因不明の慢性硬膜下血腫を発症したVAMP2遺伝子異常症の1例

  大原 智子; 濱中 耕平; 中島 光子; 白井 育子; 有坂 敦子; 田村 友美恵; 眞下 秀明; 柏井 洋文; 星野 愛; 福田 光成; 熊田 聡子; 松本 直通; 加藤 光広

  脳と発達, Jul. 2022

  
• Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.

  Koyo Tsujikawa; Kohei Hamanaka; Yuichi Riku; Yuki Hattori; Norikazu Hara; Yohei Iguchi; Shinsuke Ishigaki; Atsushi Hashizume; Satoko Miyatake; Satomi Mitsuhashi; Yu Miyazaki; Mayumi Kataoka; Li Jiayi; Keizo Yasui; Satoshi Kuru; Haruki Koike; Kenta Kobayashi; Naruhiko Sahara; Norio Ozaki; Mari Yoshida; Akiyoshi Kakita; Yuko Saito; Yasushi Iwasaki; Akinori Miyashita; Takeshi Iwatsubo; Takeshi Ikeuchi; Takaki Miyata; Gen Sobue; Naomichi Matsumoto; Kentaro Sahashi; Masahisa Katsuno

  Science advances, 27 May 2022

  
• Monogenic causes of pigmentary mosaicism.

  Ken Saida; Pin Fee Chong; Asuka Yamaguchi; Naka Saito; Hajime Ikehara; Eriko Koshimizu; Rie Miyata; Akira Ishiko; Kazuyuki Nakamura; Hidenori Ohnishi; Kei Fujioka; Takafumi Sakakibara; Hideo Asada; Kohei Ogawa; Kyoko Kudo; Eri Ohashi; Michiko Kawai; Yuichi Abe; Naomi Tsuchida; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Mitsuhiro Kato; Ryutaro Kira; Naomichi Matsumoto

  Human genetics, 03 May 2022, Peer-reviewed

  
• Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

  Satoko Miyatake; Kunihiro Yoshida; Eriko Koshimizu; Hiroshi Doi; Mitsunori Yamada; Yosuke Miyaji; Naohisa Ueda; Jun Tsuyuzaki; Minori Kodaira; Hiroyuki Onoue; Masataka Taguri; Shintaro Imamura; Hiromi Fukuda; Kohei Hamanaka; Atsushi Fujita; Mai Satoh; Takabumi Miyama; Nobuko Watanabe; Yusuke Kurita; Masaki Okubo; Kenichi Tanaka; Hitaru Kishida; Shigeru Koyano; Tatsuya Takahashi; Yoya Ono; Kazuhiro Higashida; Nobuaki Yoshikura; Katsuhisa Ogata; Rumiko Kato; Naomi Tsuchida; Yuri Uchiyama; Noriko Miyake; Takayoshi Shimohata; Fumiaki Tanaka; Takeshi Mizuguchi; Naomichi Matsumoto

  Brain : a journal of neurology, 29 Apr. 2022

  
• Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

  Kohei Hamanaka; Noriko Miyake; Takeshi Mizuguchi; Satoko Miyatake; Yuri Uchiyama; Naomi Tsuchida; Futoshi Sekiguchi; Satomi Mitsuhashi; Yoshinori Tsurusaki; Mitsuko Nakashima; Hirotomo Saitsu; Kohei Yamada; Masamune Sakamoto; Hiromi Fukuda; Sachiko Ohori; Ken Saida; Toshiyuki Itai; Yoshiteru Azuma; Eriko Koshimizu; Atsushi Fujita; Biray Erturk; Yoko Hiraki; Gaik-Siew Ch'ng; Mitsuhiro Kato; Nobuhiko Okamoto; Atsushi Takata; Naomichi Matsumoto

  Genome medicine, 26 Apr. 2022

  
• Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.

  Kohei Hamanaka; Keita Miyoshi; Jia-Hui Sun; Keisuke Hamada; Takao Komatsubara; Ken Saida; Naomi Tsuchida; Yuri Uchiyama; Atsushi Fujita; Takeshi Mizuguchi; Benedicte Gerard; Allan Bayat; Berardo Rinaldi; Mitsuhiro Kato; Jun Tohyama; Kazuhiro Ogata; Yun Stone Shi; Kuniaki Saito; Satoko Miyatake; Naomichi Matsumoto

  Human genetics, 15 Jan. 2022

  
• Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.

  Yutaka Odanaka; Akira Ashida; Shintaro Nemoto; Kohei Hamanaka; Naomichi Matsumoto

  Pediatrics international : official journal of the Japan Pediatric Society, Jan. 2022

  
• Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

  Kana Kitayama; Tomoya Ishiguro; Masaki Komiyama; Takayuki Morisaki; Hiroko Morisaki; Gaku Minase; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto; Masaru Kato; Toru Takahashi; Tohru Yorifuji

  BMC medical genomics, 06 Dec. 2021

  
• Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.

  Hiromi Fukuda; Daisuke Yamaguchi; Kristofor Nyquist; Yasushi Yabuki; Satoko Miyatake; Yuri Uchiyama; Kohei Hamanaka; Ken Saida; Eriko Koshimizu; Naomi Tsuchida; Atsushi Fujita; Satomi Mitsuhashi; Kazuyuki Ohbo; Yuki Satake; Jun Sone; Hiroshi Doi; Keisuke Morihara; Tomoko Okamoto; Yuji Takahashi; Aaron M Wenger; Norifumi Shioda; Fumiaki Tanaka; Naomichi Matsumoto; Takeshi Mizuguchi

  Clinical epigenetics, 13 Nov. 2021

  
• Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.

  Rie Seyama; Naomi Tsuchida; Yasuyuki Okada; Sonoko Sakata; Keisuke Hamada; Yoshiteru Azuma; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Satoko Miyatake; Takeshi Mizuguchi; Shintaro Makino; Atsuo Itakura; Satoshi Okada; Nobuhiko Okamoto; Kazuhiro Ogata; Yuri Uchiyama; Naomichi Matsumoto

  Journal of human genetics, 01 Nov. 2021

  
• Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy.

  Ken Saida; Junya Tamaoki; Masayuki Sasaki; Muzhirah Haniffa; Eriko Koshimizu; Toru Sengoku; Hiroki Maeda; Masahiro Kikuchi; Haruna Yokoyama; Masamune Sakamoto; Kazuhiro Iwama; Futoshi Sekiguchi; Kohei Hamanaka; Atsushi Fujita; Takeshi Mizuguchi; Kazuhiro Ogata; Noriko Miyake; Satoko Miyatake; Makoto Kobayashi; Naomichi Matsumoto

  Clinical genetics, 27 Sep. 2021

  
• Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.

  Shinichi Kameyama; Takeshi Mizuguchi; Hiromi Fukuda; Lip Hen Moey; Wee Teik Keng; Nobuhiko Okamoto; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Atsushi Fujita; Satoko Miyatake; Naomichi Matsumoto

  Journal of human genetics, 17 Sep. 2021

  
• De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

  Masamune Sakamoto; Kazunori Sasaki; Atsushi Sugie; Yohei Nitta; Tetsuaki Kimura; Semra Gürsoy; Tayfun Cinleti; Mizue Iai; Toru Sengoku; Kazuhiro Ogata; Atsushi Suzuki; Nobuhiko Okamoto; Kazuhiro Iwama; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Atsushi Fujita; Kohei Hamanaka; Satoko Miyatake; Takeshi Mizuguchi; Masataka Taguri; Shuuichi Ito; Hidehisa Takahashi; Noriko Miyake; Naomichi Matsumoto

  Human molecular genetics, 04 Aug. 2021

  
• Spastic paraplegia-46の1例

  横井 美央; 岩中 行己男; 成毛 哲思; 濱中 耕平; 宮武 聡子; 松本 直通; 荒川 修治; 岡田 和将; 足立 弘明

  臨床神経学, Aug. 2021

  
• Prenatal clinical manifestations in individuals with COL4A1/2 variants.

  Toshiyuki Itai; Satoko Miyatake; Masataka Taguri; Fumihito Nozaki; Masayasu Ohta; Hitoshi Osaka; Masafumi Morimoto; Tomoko Tandou; Fumikatsu Nohara; Yuichi Takami; Fumitaka Yoshioka; Shoko Shimokawa; Jiu Okuno-Yuguchi; Mitsuo Motobayashi; Yuko Takei; Tetsuhiro Fukuyama; Satoko Kumada; Yohane Miyata; Chikako Ogawa; Yuki Maki; Noriko Togashi; Teruyuki Ishikura; Makoto Kinoshita; Yusuke Mitani; Yonehiro Kanemura; Tsuyoshi Omi; Naoki Ando; Ayako Hattori; Shinji Saitoh; Yukihiro Kitai; Satori Hirai; Hiroshi Arai; Fumihiko Ishida; Hidetoshi Taniguchi; Yasuji Kitabatake; Keiichi Ozono; Shin Nabatame; Robert Smigiel; Mitsuhiro Kato; Koichi Tanda; Yoshihiko Saito; Akihiko Ishiyama; Yushi Noguchi; Mazumi Miura; Takaaki Nakano; Keiko Hirano; Ryoko Honda; Ichiro Kuki; Jun-Ichi Takanashi; Akihito Takeuchi; Tatsuya Fukasawa; Chizuru Seiwa; Atsuko Harada; Yusuke Yachi; Hiroyuki Higashiyama; Hiroshi Terashima; Tadayuki Kumagai; Satoshi Hada; Yoshiichi Abe; Etsuko Miyagi; Yuri Uchiyama; Atsushi Fujita; Eri Imagawa; Yoshiteru Azuma; Kohei Hamanaka; Eriko Koshimizu; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Hiroshi Doi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto

  Journal of medical genetics, Aug. 2021

  
• Novel CLTC variants cause new brain and kidney phenotypes.

  Toshiyuki Itai; Satoko Miyatake; Naomi Tsuchida; Ken Saida; Sho Narahara; Yu Tsuyusaki; Matheus Augusto Araujo Castro; Chong Ae Kim; Nobuhiko Okamoto; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Atsushi Fujita; Takeshi Mizuguchi; Naomichi Matsumoto

  Journal of human genetics, 07 Jul. 2021

  
• Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

  Masaki Nishioka; An-A Kazuno; Takumi Nakamura; Naomi Sakai; Takashi Hayama; Kumiko Fujii; Koji Matsuo; Atsuko Komori; Mizuho Ishiwata; Yoshinori Watanabe; Takashi Oka; Nana Matoba; Muneko Kataoka; Ahmed N Alkanaq; Kohei Hamanaka; Takashi Tsuboi; Toru Sengoku; Kazuhiro Ogata; Nakao Iwata; Masashi Ikeda; Naomichi Matsumoto; Tadafumi Kato; Atsushi Takata

  Nature communications, 18 Jun. 2021

  
• Refinement of the clinical variant interpretation framework by statistical evidence and machine learning

  Atsushi Takata; Kohei Hamanaka; Naomichi Matsumoto

  Med, Mar. 2021, Peer-reviewed

  
• De novo ATP1A3 variants cause polymicrogyria.

  Satoko Miyatake; Mitsuhiro Kato; Takuma Kumamoto; Tomonori Hirose; Eriko Koshimizu; Takaaki Matsui; Hideyuki Takeuchi; Hiroshi Doi; Keisuke Hamada; Mitsuko Nakashima; Kazunori Sasaki; Akio Yamashita; Atsushi Takata; Kohei Hamanaka; Mai Satoh; Takabumi Miyama; Yuri Sonoda; Momoko Sasazuki; Hiroyuki Torisu; Toshiro Hara; Yasunari Sakai; Yushi Noguchi; Mazumi Miura; Yoko Nishimura; Kazuyuki Nakamura; Hideyuki Asai; Nodoka Hinokuma; Fuyuki Miya; Tatsuhiko Tsunoda; Masami Togawa; Yukihiro Ikeda; Nobusuke Kimura; Kaoru Amemiya; Asako Horino; Masataka Fukuoka; Hiroko Ikeda; Goni Merhav; Nina Ekhilevitch; Masaki Miura; Takeshi Mizuguchi; Noriko Miyake; Atsushi Suzuki; Shouichi Ohga; Hirotomo Saitsu; Hidehisa Takahashi; Fumiaki Tanaka; Kazuhiro Ogata; Chiaki Ohtaka-Maruyama; Naomichi Matsumoto

  Science advances, Mar. 2021

  
• De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

  Toshiyuki Itai; Kohei Hamanaka; Kazunori Sasaki; Matias Wagner; Urania Kotzaeridou; Ines Brösse; Markus Ries; Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Winnie P. Ong; Hui B. Chew; Kavitha Rethanavelu; Emmanuelle Ranza; Xavier Blanc; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Yoshiteru Azuma; Eriko Koshimizu; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hidehisa Takahashi; Etsuko Miyagi; Yoshinori Tsurusaki; Hiroshi Doi; Masataka Taguri; Stylianos E. Antonarakis; Mitsuko Nakashima; Hirotomo Saitsu; Satoko Miyatake; Naomichi Matsumoto

  Human Mutation, Jan. 2021

  
• Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

  Yuri Uchiyama; Daisuke Yamaguchi; Kazuhiro Iwama; Satoko Miyatake; Kohei Hamanaka; Naomi Tsuchida; Hiromi Aoi; Yoshiteru Azuma; Toshiyuki Itai; Ken Saida; Hiromi Fukuda; Futoshi Sekiguchi; Tomohiro Sakaguchi; Ming Lei; Sachiko Ohori; Masamune Sakamoto; Mitsuhiro Kato; Takayoshi Koike; Yukitoshi Takahashi; Koichi Tanda; Yuki Hyodo; Rachel S. Honjo; Debora Romeo Bertola; Chong Ae Kim; Masahide Goto; Tetsuya Okazaki; Hiroyuki Yamada; Yoshihiro Maegaki; Hitoshi Osaka; Lock‐Hock Ngu; Ch'ng G. Siew; Keng W. Teik; Manami Akasaka; Hiroshi Doi; Fumiaki Tanaka; Tomohide Goto; Long Guo; Shiro Ikegawa; Kazuhiro Haginoya; Muzhirah Haniffa; Nozomi Hiraishi; Yoko Hiraki; Satoru Ikemoto; Atsuro Daida; Shin‐ichiro Hamano; Masaki Miura; Akihiko Ishiyama; Osamu Kawano; Akane Kondo; Hiroshi Matsumoto; Nobuhiko Okamoto; Tohru Okanishi; Yukimi Oyoshi; Eri Takeshita; Toshifumi Suzuki; Yoshiyuki Ogawa; Hiroshi Handa; Yayoi Miyazono; Eriko Koshimizu; Atsushi Fujita; Atsushi Takata; Noriko Miyake; Takeshi Mizuguchi; Naomichi Matsumoto

  Human Mutation, Jan. 2021

  
• Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.

  Takeshi Mizuguchi; Nobuhiko Okamoto; Keiko Yanagihara; Satoko Miyatake; Yuri Uchiyama; Naomi Tsuchida; Kohei Hamanaka; Atsushi Fujita; Noriko Miyake; Naomichi Matsumoto

  Genomics, Jan. 2021

  
• Whole exome sequencing of fetal structural anomalies detected by ultrasonography

  Hiromi Aoi; Takeshi Mizuguchi; Toshifumi Suzuki; Shintaro Makino; Yuka Yamamoto; Jun Takeda; Yojiro Maruyama; Rie Seyama; Shiori Takeuchi; Yuri Uchiyama; Yoshiteru Azuma; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Satoko Miyatake; Satomi Mitsuhashi; Atsushi Takata; Noriko Miyake; Satoru Takeda; Atsuo Itakura; Naomichi Matsumoto

  Journal of Human Genetics, 03 Nov. 2020

  
• Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.

  Masashi Ogasawara; Eiji Nakagawa; Eri Takeshita; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto; Masayuki Sasaki

  Molecular syndromology, Nov. 2020

  
• The identification of two pathogenic variants in a family with mild and severe forms of developmental delay

  Noriko Miyake; Shermineh Heydari; Masoud Garshasbi; Shinji Saitoh; Jafar Nasiri; Kohei Hamanaka; Atsushi Takata; Naomichi Matsumoto; Farnaz Hosseini Beheshti; Ahmad Reza Salehi Chaleshtori

  Journal of Human Genetics, 09 Oct. 2020

  
• MYRFは46,XXおよび46,XY DSDの原因遺伝子である

  増永 陽平; 濱中 耕平; 高田 篤; 和田 友香; 福井 由宇子; 南 佐和子; 深見 真紀; 長谷川 奉延; 松本 直通; 緒方 勤

  日本内分泌学会雑誌, Aug. 2020

  
• Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.

  Kohei Hamanaka; Darina Šikrová; Satomi Mitsuhashi; Hiroki Masuda; Yukari Sekiguchi; Atsuhiko Sugiyama; Kazumoto Shibuya; Richard J L F Lemmers; Remko Goossens; Megumu Ogawa; Koji Nagao; Chikashi Obuse; Satoru Noguchi; Yukiko K Hayashi; Satoshi Kuwabara; Judit Balog; Ichizo Nishino; Silvère M van der Maarel

  Neurology, 09 Jun. 2020, Peer-reviewed

  
• A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

  Masamune Sakamoto; Den Kouhei; Muzhirah Haniffa; Sebastián Silva; Mónica Troncoso; Paola Santander; Valeria Schonstedt; Ximena Stecher; Nobuhiko Okamoto; Kohei Hamanaka; Takeshi Mizuguchi; Satomi Mitsuhashi; Noriko Miyake; Naomichi Matsumoto

  Journal of human genetics, 14 May 2020, Peer-reviewed

  
• De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

  Kohei Hamanaka; Eri Imagawa; Eriko Koshimizu; Satoko Miyatake; Jun Tohyama; Takanori Yamagata; Akihiko Miyauchi; Nina Ekhilevitch; Fumio Nakamura; Takeshi Kawashima; Yoshio Goshima; Ahmad Rithauddin Mohamed; Gaik-Siew Ch'ng; Atsushi Fujita; Yoshiteru Azuma; Ken Yasuda; Shintaro Imamura; Mitsuko Nakashima; Hirotomo Saitsu; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Naomichi Matsumoto

  American journal of human genetics, 10 Mar. 2020, Peer-reviewed

  
• Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

  Miyake N; Takahashi H; Nakamura K; Isidor B; Hiraki Y; Koshimizu E; Shiina M; Sasaki K; Suzuki H; Abe R; Kimura Y; Akiyama T; Tomiza S; Hirose T; Hamanaka K; Miyatake S; Mitsuhashi S; Mizuguchi T; Takata A; Oho K; Kato M; Ogata K; Matsumoto N

  Am J Hum Genet., Jan. 2020, Peer-reviewed

  
• Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

  Sekiguchi F; Tsurusaki Y; Okamoto N; Teik KW; Mizuno S; Suzumura H; Isidor B; Ong WP; Haniffa M; White SM; Matsuo M; Saito K; Phadke S; Kosho T; Yap P; Goyal M; Clarke LA; Sachdev R; McGillivray G; Leventer RJ; Patel C; Yamagata T; Osaka H; Hisaeda Y; Ohashi H; Shimizu K; Nagasaki K; Hamada J; Dateki S; Sato T; Chinen Y; Awaya T; Kato T; Iwanaga K; Kawai M; Matsuoka T; Shimoji Y; Tan TY; Kapoor S; Gregersen N; Rossi M; Marie-Laure M; McGregor L; Oishi K; Mehta L; Gillies G; Lockhart PJ; Pope K; Shukla A; Girisha KM; Abdel-Salam GMH; Mowat D; Coman D; Kim OH; Cordier MP; Gibson K; Milunsky J; Liebelt J; Cox H; El Chehadeh S; Toutain A; Saida K; Aoi H; Minase G; Tsuchida N; Iwama K; Uchiyama Y; Suzuki T; Hamanaka K; Azuma Y; Fujita A; Imagawa E; Koshimizu E; Takata A; Mitsuhashi S; Miyatake S; Mizuguchi T; Miyake N; Matsumoto N

  J Hum Genet., Dec. 2019, Peer-reviewed

  
• Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.

  Wakaba Endo; Satoru Ikemoto; Noriko Togashi; Takuya Miyabayashi; Erika Nakajima; Shin-Ichiro Hamano; Moriei Shibuya; Ryo Sato; Yusuke Takezawa; Yukimune Okubo; Takehiko Inui; Mitsuhiro Kato; Toru Sengoku; Kazuhiro Ogata; Kohei Hamanaka; Takeshi Mizuguchi; Satoko Miyatake; Mitsuko Nakashima; Naomichi Matsumoto; Kazuhiro Haginoya

  Brain & development, 14 Nov. 2019, Peer-reviewed

  
• Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

  Alkanaq AN; Hamanaka K; Sekiguchi F; Taguri M; Takata A; Miyake N; Miyatake S; Mizuguchi T; Matsumoto N

  J Hum Genet., Nov. 2019, Peer-reviewed

  
• Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

  Aoi H; Mizuguchi T; Ceroni JR; Kim VEH; Furquim I; Honjo RS; Iwaki T; Suzuki T; Sekiguchi F; Uchiyama Y; Azuma Y; Hamanaka K; Koshimizu E; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Takeda S; Itakura A; Bertola DR; Kim CA; Matsumoto N

  J Hum Genet., Oct. 2019, Peer-reviewed

  
• L-dopa反応性のジストニアを呈し、遺伝子解析によりセピアプテリン還元酵素(SR)欠損症と診断した1例(第136回静岡地方会発表症例の続報)

  久世 崇史; 中釜 悠; 濱中 耕平; 新宅 治夫; 宮武 聡子; 松本 直通; 安藤 太郎; 高見澤 幸一; 入倉 朋也; 増井 礼子; 柏井 洋文; 清水 信隆; 三牧 正和

  日本小児科学会雑誌, Sep. 2019, Peer-reviewed

  
• A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.

  Oguni H; Nishikawa A; Sato Y; Otani Y; Ito S; Nagata S; Kato M; Hamanaka K; Miyatake S; Matsumoto N

  Epilepsy research, Sep. 2019, Peer-reviewed

  
• Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

  Uchiyama Y; Kim CA; Pastorino AC; Ceroni J; Lima PP; de Barros Dorna M; Honjo RS; Bertola D; Hamanaka K; Fujita A; Mitsuhashi S; Miyatake S; Takata A; Miyake N; Mizuguchi T; Matsumoto N

  J Hum Genet., Sep. 2019, Peer-reviewed

  
• Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.

  Sone J; Mitsuhashi S; Fujita A; Mizuguchi T; Hamanaka K; Mori K; Koike H; Hashiguchi A; Takashima H; Sugiyama H; Kohno Y; Takiyama Y; Maeda K; Doi H; Koyano S; Takeuchi H; Kawamoto M; Kohara N; Ando T; Ieda T; Kita Y; Kokubun N; Tsuboi Y; Katoh K; Kino Y; Katsuno M; Iwasaki Y; Yoshida M; Tanaka F; Suzuki IK; Frith MC; Matsumoto N; Sobue G

  Nature genetics, Aug. 2019, Peer-reviewed

  
• MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

  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

  Human molecular genetics, Jul. 2019, Peer-reviewed

  
• Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

  Hirasawa-Inoue A; Ishiyama A; Takeshita E; Shimizu-Motohashi Y; Saito T; Komaki H; Nakagawa E; Yuasa S; Saitsu H; Hamanaka K; Miyatake S; Matsumoto N; Sasaki M

  Brain & development, Jul. 2019, Peer-reviewed

  
• RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

  Kohei Hamanaka; Satoko Miyatake; Eriko Koshimizu; Yoshinori Tsurusaki; Satomi Mitsuhashi; Kazuhiro Iwama; Ahmed N. Alkanaq; Atsushi Fujita; Eri Imagawa; Yuri Uchiyama; Nozomu Tawara; Yukio Ando; Yohei Misumi; Mariko Okubo; Mitsuko Nakashima; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hirotomo Saitsu; Aritoshi Iida; Ichizo Nishino; Naomichi Matsumoto

  Genetics in Medicine, 01 Jul. 2019, Peer-reviewed

  
• Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

  Atsushi Takata; Mitsuko Nakashima; Hirotomo Saitsu; Takeshi Mizuguchi; Satomi Mitsuhashi; Yukitoshi Takahashi; Nobuhiko Okamoto; Hitoshi Osaka; Kazuyuki Nakamura; Jun Tohyama; Kazuhiro Haginoya; Saoko Takeshita; Ichiro Kuki; Tohru Okanishi; Tomohide Goto; Masayuki Sasaki; Yasunari Sakai; Noriko Miyake; Satoko Miyatake; Naomi Tsuchida; Kazuhiro Iwama; Gaku Minase; Futoshi Sekiguchi; Atsushi Fujita; Eri Imagawa; Eriko Koshimizu; Yuri Uchiyama; Kohei Hamanaka; Chihiro Ohba; Toshiyuki Itai; Hiromi Aoi; Ken Saida; Tomohiro Sakaguchi; Kouhei Den; Rina Takahashi; Hiroko Ikeda; Tokito Yamaguchi; Kazuki Tsukamoto; Shinsaku Yoshitomi; Taikan Oboshi; Katsumi Imai; Tomokazu Kimizu; Yu Kobayashi; Masaya Kubota; Hirofumi Kashii; Shimpei Baba; Mizue Iai; Ryutaro Kira; Munetsugu Hara; Masayasu Ohta; Yohane Miyata; Rie Miyata; Jun-Ichi Takanashi; Jun Matsui; Kenji Yokochi; Masayuki Shimono; Masano Amamoto; Rumiko Takayama; Shinichi Hirabayashi; Kaori Aiba; Hiroshi Matsumoto; Shin Nabatame; Takashi Shiihara; Mitsuhiro Kato; Naomichi Matsumoto

  Nature communications, 07 Jun. 2019

  
• L-dopa反応性の眼球運動異常発作を呈し、SPR変異の同定により、セピアプテリン還元酵素欠損症と診断された1例

  中釜 悠; 濱中 耕平; 新宅 治夫; 宮武 聡子; 松本 直通; 久世 崇史; 清水 信隆; 廣畑 晃司; 三牧 正和

  脳と発達, May 2019, Peer-reviewed

  
• Leaky splicing variant in sepiapterin reductase deficiency Are milder cases escaping diagnosis?

  Yu Nakagama; Kohei Hamanaka; Masakazu Mimaki; Haruo Shintaku; Satoko Miyatake; Naomichi Matsumoto; Koji Hirohata; Ryo Inuzuka; Akira Oka

  NEUROLOGY-GENETICS, Apr. 2019, Peer-reviewed

  
• 眼球運動失行様所見を伴い小脳性運動失調と鑑別を要したNKX2-1関連疾患の5歳男児例

  小野 博也; 石山 昭彦; 竹下 絵里; 本橋 裕子; 齋藤 貴志; 小牧 宏文; 中川 栄二; 濱中 耕平; 宮武 聡子; 松本 直通; 佐々木 征行

  脳と発達, Mar. 2019, Peer-reviewed

  
• SOFT syndrome in a patient from Chile.

  Saida K; Silva S; Solar B; Fujita A; Hamanaka K; Mitsuhashi S; Koshimizu E; Mizuguchi T; Miyatake S; Takata A; Miyake N; Matsumoto N

  Am J Med Genet A., Mar. 2019, Peer-reviewed

  
• A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

  Yuri Uchiyama; Kunio Yanagisawa; Shinji Kunishima; Masaaki Shiina; Yoshiyuki Ogawa; Mitsuko Nakashima; Junko Hirato; Eri Imagawa; Atsushi Fujita; Kohei Hamanaka; Satoko Miyatake; Satomi Mitsuhashi; Atsushi Takata; Noriko Miyake; Kazuhiro Ogata; Hiroshi Handa; Naomichi Matsumoto; Takeshi Mizuguchi

  Clinical genetics, Dec. 2018, Peer-reviewed

  
• Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

  Kohei Hamanaka; Satoko Miyatake; Ayelet Zerem; Dorit Lev; Luba Blumkin; Kenji Yokochi; Atsushi Fujita; Eri Imagawa; Kazuhiro Iwama; Mitsuko Nakashima; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hirotomo Saitsu; Marjo S van der Knaap; Tally Lerman-Sagie; Naomichi Matsumoto

  Journal of human genetics, Dec. 2018, Peer-reviewed

  
• De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

  Hamanaka K; Sugawara Y; Shimoji T; Nordtveit TI; Kato M; Nakashima M; Saitsu H; Suzuki T; Yamakawa K; Aukrust I; Houge G; Mitsuhashi S; Takata A; Iwama K; Alkanaq A; Fujita A; Imagawa E; Mizuguchi T; Miyake N; Miyatake S; Matsumoto N

  European journal of human genetics : EJHG, Nov. 2018, Peer-reviewed

  
• 当院で経験したGNAO1遺伝子変異の3症例 幅広いスペクトラムを有するG蛋白の異常

  西田 裕哉; 熊田 聡子; 白井 育子; 濱中 耕平; 宮武 聡子; 栗原 まな; 島田 姿野; 眞下 秀明; 宮田 世羽; 栗原 栄二; 松本 直通

  脳と発達, Sep. 2018

  
• Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.

  K Hamanaka; K Takahashi; S Miyatake; S Mitsuhashi; H Hamanoue; Y Miyaji; R Fukai; H Doi; A Fujita; E Imagawa; K Iwama; M Nakashima; T Mizuguchi; A Takata; N Miyake; H Takeuchi; F Tanaka; N Matsumoto

  Clinical genetics, Aug. 2018, Peer-reviewed

  
• KMT2B遺伝子変異2例に対する淡蒼球内節刺激療法 定量的運動機能解析システムを用いた検討

  宮田 世羽; 吉田 大峰; 本多 武尊; 熊田 聡子; 眞下 秀明; 西田 裕哉; 白井 育子; 横地 房子; 筧 慎治; 濱中 耕平; 宮武 聡子; 松本 直通; 服部 文子; 瓦井 俊孝; 谷口 真

  脳と発達, May 2018, Peer-reviewed

  
• A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

  Hiroyuki Fukuda; Eri Imagawa; Kohei Hamanaka; Atsushi Fujita; Satomi Mitsuhashi; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Uri Kramer; Naomichi Matsumoto; Aviva Fattal-Valevski

  Journal of human genetics, May 2018, Peer-reviewed

  
• A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month.

  Jantima Tanboon; Akinori Uruha; Kohei Hamanaka; Juri Hasegawa; Ichizo Nishino

  Brain pathology (Zurich, Switzerland), Jan. 2018, Peer-reviewed

  
• Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

  Masayuki Nakamori; Kohei Hamanaka; James D. Thomas; Eric T. Wang; Yukiko K. Hayashi; Masanori P. Takahashi; Maurice S. Swanson; Ichizo Nishino; Hideki Mochizuki

  CELL REPORTS, Oct. 2017, Peer-reviewed

  
• Skeletal Muscle Involvement in Antisynthetase Syndrome

  Eri Noguchi; Akinori Uruha; Shigeaki Suzuki; Kohei Hamanaka; Yuko Ohnuki; Jun Tsugawa; Yurika Watanabe; Jin Nakahara; Takashi Shiina; Norihiro Suzuki; Ichizo Nishino

  JAMA NEUROLOGY, Aug. 2017, Peer-reviewed

  
• 【最新遺伝医学研究と遺伝カウンセリング シリーズ2 最新精神・神経遺伝医学研究と遺伝カウンセリング】(第2章)精神・神経疾患の遺伝医学研究・診療各論 筋疾患の遺伝医学研究

  濱中 耕平; 西野 一三

  遺伝子医学MOOK, Apr. 2017, Peer-reviewed

  
• Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

  Wen-Chen Liang; Akinori Uruha; Shigeaki Suzuki; Nobuyuki Murakami; Eri Takeshita; Wan-Zi Chen; Yuh-Jyh Jong; Yukari Endo; Hirofumi Komaki; Tatsuya Fujii; Yutaka Kawano; Madoka Mori-Yoshimura; Yasushi Oya; Jianying Xi; Wenhua Zhu; Chongbo Zhao; Yurika Watanabe; Keisuke Ikemoto; Atsuko Nishikawa; Kohei Hamanaka; Satomi Mitsuhashi; Norihiro Suzuki; Ichizo Nishino

  RHEUMATOLOGY, Feb. 2017, Peer-reviewed

  
• Sarcoplasmic MxA expression A valuable marker of dermatomyositis

  Akinori Uruha; Atsuko Nishikawa; Rie S. Tsuburaya; Kohei Hamanaka; Masataka Kuwana; Yurika Watanabe; Shigeaki Suzuki; Norihiro Suzuki; Ichizo Nishino

  NEUROLOGY, Jan. 2017, Peer-reviewed

  
• 顔面肩甲上腕型筋ジストロフィー2型(FSHD2)と遺伝子診断した1例

  徳岡 秀紀; 上田 健博; 遠藤 浩信; 立花 久嗣; 千原 典夫; 関口 兼司; 古和 久朋; 苅田 典生; 濱中 耕平; 西野 一三; 戸田 達史

  臨床神経学, Nov. 2016, Peer-reviewed

  
• HLA-DRB1 ALLELES IN IMMUNE-MEDIATED NECROTIZING MYOPATHY

  Yuko Ohnuki; Shigeaki Suzuki; Takashi Shiina; Akinori Uruha; Yurika Watanabe; Shingo Suzuki; Shunichiro Izumi; Jin Nakahara; Kohei Hamanaka; Kazuko Takayama; Norihiro Suzuki; Ichizo Nishino

  NEUROLOGY, Nov. 2016, Peer-reviewed

  
• 壊死性ミオパチーにおける免疫治療と神経学的予後 抗SRP抗体と抗HMGCR抗体の比較

  渡邊 由里香; 鈴木 重明; 漆葉 章典; 濱中 耕平; 中原 仁; 高山 和子; 鈴木 則宏; 西野 一三

  神経治療学, Oct. 2016, Peer-reviewed

  
• Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy

  Yurika Watanabe; Akinori Uruha; Shigeaki Suzuki; Jin Nakahara; Kohei Hamanaka; Kazuko Takayama; Norihiro Suzuki; Ichizo Nishino

  JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Oct. 2016, Peer-reviewed

  
• "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations" (vol 26, pg 300, 2016)

  Kohei Hamanaka; Kanako Goto; Mami Arai; Koji Nagao; Chikashi Obuse; Satoru Noguchi; Yukiko K. Hayashi; Satomi Mitsuhashi; Ichizo Nishino

  NEUROMUSCULAR DISORDERS, Jul. 2016, Peer-reviewed

  
• Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308].

  Kohei Hamanaka; Kanako Goto; Mami Arai; Koji Nagao; Chikashi Obuse; Satoru Noguchi; Yukiko K Hayashi; Satomi Mitsuhashi; Ichizo Nishino

  Neuromuscular disorders : NMD, Jul. 2016, Peer-reviewed

  
• Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

  Kohei Hamanaka; Kanako Goto; Mami Arai; Koji Nagao; Chikashi Obuse; Satoru Noguchi; Yukiko K. Hayashi; Satomi Mitsuhashi; Ichizo Nishino

  NEUROMUSCULAR DISORDERS, Apr. 2016, Peer-reviewed

  
• Muscle from a 20-week-old myotubular myopathy fetus is not myotubular

  Kohei Hamanaka; Ikuhiro Inami; Takahito Wada; Satomi Mitsuhashi; Satoru Noguchi; Yukiko K. Hayashi; Ichizo Nishino

  NEUROMUSCULAR DISORDERS, Mar. 2016, Peer-reviewed

  
• 先天性筋強直性ジストロフィー症の筋未熟性とCpGメチル化異常

  中森 雅之; 濱中 耕平; 林 由起子; 西野 一三; 高橋 正紀; 望月 秀樹

  臨床神経学, Dec. 2015, Peer-reviewed

  
• 顔面肩甲上腕型筋ジストロフィーの遺伝学的解析2015

  後藤 加奈子; 三橋 里美; 濱中 耕平; 西野 一三

  臨床神経学, Dec. 2015, Peer-reviewed

  
• 顔面肩甲上腕型筋ジストロフィー患者のエピゲノム解析

  三橋 里美; 濱中 耕平; 後藤 加奈子; 西野 一三

  日本生化学会大会・日本分子生物学会年会合同大会講演要旨集, Dec. 2015, Peer-reviewed

  
• 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】ミトコンドリア病 ミトコンドリア病の臨床的表現型による分類 Myopathy,lactic acidosis,and sideroblastic anemia(MLASA)

  濱中 耕平; 西野 一三

  日本臨床, Jul. 2015, Peer-reviewed

  
• Useful differential diagnostic markers between congenital myotonic dystrophy and X-linked myotubular myopathy

  Hamanaka K; Noguchi S; Hayashi Y. K; Nishino I

  NEUROMUSCULAR DISORDERS, Oct. 2013, Peer-reviewed

  

Misc.

• 筋ジストロフィーおよび関連疾患の診断・治療開発を目指した基盤研究 筋強直性ジストロフィーの分子病態と治療法に関する研究

  高橋正紀; 中森雅之; 木村卓; 濱中耕平; 穀内洋介; 古田充; 藤村晴俊; 佐古田三郎; 望月秀樹; 林由起子; 林由起子; SWANSON Maurice S.; THORNTON Charles A.; CHARLET-BERGUERAND Nicolas; 西野一三

  筋ジストロフィーおよび関連疾患の診断・治療開発を目指した基盤研究 平成23-25年度 総括研究報告書, 2014

  
• セピアプテリン還元酵素欠損症に認められたleaky splicing variant

  中釜悠; 中釜悠; 三牧正和; 新宅治夫; 濱中耕平; 宮武聡子; 松本直通; 犬塚亮; 岡明

  日本小児遺伝学会学術集会プログラム・抄録集, 2019

  
• Long-term course of a 24 year-old woman with LGMD2A

  阪下達哉; 阪下達哉; 中村勝哉; 中村勝哉; 中村勝哉; 石川真澄; 石川真澄; 平林伸一; 酒井典子; 濱中耕平; 宮武聡子; 松本直通; 古庄知己; 古庄知己

  日本遺伝カウンセリング学会誌, 2021

  
• 発作性の運動障害を認めたKIAA2022遺伝子異常の女性例

  小笠原 真志; 中川 栄二; 濱中 耕平; 竹下 絵里; 本橋 裕子; 石山 昭彦; 斎藤 貴志; 小牧 宏文; 須貝 研司; 宮武 聡子; 松本 直通; 佐々木 征行

  脳と発達, Sep. 2018

  
• KMT2B遺伝子変異2例に対する淡蒼球内節刺激療法 定量的運動機能解析システムを用いた検討

  宮田 世羽; 吉田 大峰; 本多 武尊; 熊田 聡子; 眞下 秀明; 西田 裕哉; 白井 育子; 横地 房子; 筧 慎治; 濱中 耕平; 宮武 聡子; 松本 直通; 服部 文子; 瓦井 俊孝; 谷口 真

  脳と発達, May 2018

  
• 大脳白質形成不全症の新規遺伝子TUBB4A

  濱中 耕平; 宮武 聡子

  神経内科, Feb. 2018, Invited

  
• Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl coenzyme a reductase antibodies

  W. Liang; A. Uruha; S. Suzuki; H. Komaki; W. Zhu; Y. Watanabe; A. Nishikawa; K. Hamanaka; S. Mitsuhashi; I. Nishino

  NEUROMUSCULAR DISORDERS, Oct. 2016

  
• 筋病理診断を施行したanti-synthetase syndromeの臨床特徴

  野口 恵里; 鈴木 重明; 漆葉 章典; 大貫 優子; 濱中 耕平; 渡邊 由里香; 中原 仁; 椎名 隆; 鈴木 則宏; 西野 一三

  神経免疫学, Sep. 2016

  

Awards

• 11 Nov. 2022

  奨励賞（日本人類遺伝学会）

External funds: Kakenhi

• スプライシング関連タンデムリピートが遺伝性疾患の病態に果たす役割の解明

  Grant-in-Aid for Early-Career Scientists

  Basic Section 51030:Pathophysiologic neuroscience-related

  Yokohama City University

  浜中 耕平

  From 01 Apr. 2022, To 31 Mar. 2024, Granted

  タンデムリピート;スプライシング;リピート伸長病;脊髄小脳変性症;量的形質座位;QTL

  https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22K15646/
• Molecular insight into the etiology of Klippel-feil syndrome

  Grant-in-Aid for Early-Career Scientists

  Basic Section 52050:Embryonic medicine and pediatrics-related

  Yokohama City University

  Kohei HAMANAKA

  From 01 Apr. 2020, To 31 Mar. 2022, Project Closed

  クリッペルフェイル症候群;染色体転座;トポロジカルドメイン;スーパーエンハンサー;エンハンサーハイジャッキング;Klippel-Feil syndrome;転座;ゲノム構造異常;全ゲノムシーケンシング

  https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20K16932/

Academic, Social Contribution

Committee Memberships

• From Jun. 2024, To Present

  Editorial Board, Human Genome Variation
• From Jun. 2024, To Present

  Editorial board, Journal of Human Genetics