Hamanaka Kohei

ハマナカコウヘイ | Hamanaka Kohei

Affiliation and department：

Research field (1)： Genetics

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

Papers (95)：

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
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
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. 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. 小児科. 2024. 65. 2. 189-192
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, et al. Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics. 2024
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics. 2024

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MISC (8)：

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

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Professional career (1)：

医学 (京都大学)

Committee career (1)：

2024/06 - 現在 Journal of Human Genetics Editorial board

Awards (1)：

2022/11 - 日本人類遺伝学会奨励賞

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