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J-GLOBAL ID：201801009281132810
Update date: Apr. 03, 2025 Hamanaka Kohei
ハマナカ コウヘイ | Hamanaka Kohei
Yokohama City University
About Yokohama City University
Research keywords (7)：
Repeat expansion disease
, Muscle pathology
, Facioscapulohumeral muscular dystrophy
, Functional genomics
, Omics
, Next generation sequencing
, genetics
Research theme for competitive and other funds (2)： - 2022 - 2024 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
- 2020 - 2022 Molecular insight into the etiology of Klippel-feil syndrome
- Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, et al. Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature. Clinical epigenetics. 2025. 17. 1. 27-27
- Shinji Masuko, Mitsuto Sato, Katsuya Nakamura, Kohei Hamanaka, Satoko Miyatake, Yuji Inaba, Tomoki Kosho, Naomichi Matsumoto, Yoshiki Sekijima. A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis. Molecular genetics & genomic medicine. 2024. 12. 11. e70044
- Sachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, et al. Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies. Genomics. 2024. 110894-110894
- Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, et al. Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. Journal of Neurology, Neurosurgery & Psychiatry. 2024. jnnp-2024
- Naoto Sugeno, Satoko Kumada, Hirofumi Kashii, Jun Ikezawa, Toshitaka Kawarai, Takaaki Nakamura, Ako Miyata, Shun Ishiyama, Kazuki Sato, Shun Yoshida, et al. Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B. Parkinsonism & related disorders. 2024. 124. 107018-107018
- 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, et al. Long-term course of a 24 year-old woman with LGMD2A. 日本遺伝カウンセリング学会誌. 2021. 42. 2
- 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. セピアプテリン還元酵素欠損症に認められたleaky splicing variant. 日本小児遺伝学会学術集会プログラム・抄録集. 2019. 41st
- 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, et al. 発作性の運動障害を認めたKIAA2022遺伝子異常の女性例. 脳と発達. 2018. 50. 5. 370-370
- 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, et al. 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. 脳と発達. 2018. 50. Suppl. S304-S304
- 濱中 耕平, 宮武 聡子. 大脳白質形成不全症の新規遺伝子TUBB4A. 神経内科. 2018. 88. 2
- 医学 (京都大学)
- 2024/06 - 現在 Human Genome Variation Editorial Board
- 2024/06 - 現在 Journal of Human Genetics Editorial board
- 2022/11 - 日本人類遺伝学会 奨励賞
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