Kohei Hamanaka

Profile Information

Affiliation: Kyoto University

Degree: 医学(Jul, 2016, 京都大学)

Contact information: hamanakayokohama-cu.ac.jp
J-GLOBAL ID: 201801009281132810
researchmap Member ID: B000330763

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＞）入学

平成２４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　研究生（出向先）

平成２８年３月　同上　博士課程所定の単位修得及び研究指導認定

平成２８年３月　同上　退学

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

　　　　　　　　横浜市立大学大学院医学研究科　環境分子医科学（遺伝学）客員研究員

現在に至る

Research Interests

Research Areas

Life sciences / Genetics /

Papers

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 …

Journal of human genetics, Jan 17, 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, Jan 12, 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 …

Journal of human genetics, Nov 27, 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 …

Journal of human genetics, Aug 18, 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 …

Scientific Reports, 13(1), Jun 16, 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 …

Journal of human genetics, 68(10) 689-697, Jun 12, 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 …

Life Science Alliance, 6(8) e202302025-e202302025, Jun 7, 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 …

Acta Neuropathologica Communications, 11(1), Mar 2, 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 …

Genome research, 33(3) 435-447, 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 …

Scientific Reports, 13(1), Jan 18, 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 …

Journal of human genetics, 68(5) 363-367, Jan 12, 2023
Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> AFF3 </scp> variants

Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake …

Clinical Genetics, Jan 7, 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 …

Journal of human genetics, 68(4) 247-253, Dec 13, 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, 62(11) 856-859, Nov 26, 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 …

Genetics in medicine : official journal of the American College of Medical Genetics, 24(12) 2453-2463, Oct 28, 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 …

npj Genomic Medicine, 7(1), Oct 26, 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 …

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 …

Genomics, 114(5) 110469-110469, Aug 27, 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 …

Genomics, 114(5) 110468-110468, Aug 27, 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 …

脳と発達, 54(4) 293-293, Jul, 2022

Misc.

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 …

日本遺伝カウンセリング学会誌, 42(2), 2021
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, 41st, 2019
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 …

脳と発達, 50(5) 370-370, 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 …

脳と発達, 50(Suppl.) S304-S304, 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, 88(2), 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, 26 S143-S144, 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, 21(1) 174-174, Sep, 2016
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 …

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

Research Projects

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

科学研究費助成事業, 若手研究, 日本学術振興会, Apr, 2022 - Mar, 2024

浜中耕平
Molecular insight into the etiology of Klippel-feil syndrome

Grants-in-Aid for Scientific Research, Grant-in-Aid for Early-Career Scientists, Japan Society for the Promotion of Science, Apr, 2020 - Mar, 2022

HAMANAKA Kohei