Research field (2):
Medical biochemistry
, Neurology
Research keywords (2):
神経内科学
, 遺伝学
Research theme for competitive and other funds (10):
2023 - 2026 ロングリードシーケンサーを駆使した神経筋疾患の統合的ゲノム解析と病態解明
2024 - 医療現場で使える全エクソーム解析自動診断アルゴリズムの開発
2023 - 2023 ロングリードシーケンサーを駆使したALSの疾患責任遺伝子の同定と病態解明
2020 - 2023 ロングリードシーケンサーを用いた神経筋疾患の原因探索と病態解明
2017 - 2020 Comprehensive genomic analysis on perisylvian syndrome
2018 - 2019 脳小血管病の新規疾患責任遺伝子同定
2015 - 2017 MTCL1 plays an essential role to maintain axon initial segment
2014 - 2017 Whole exome sequencing in moyamoya disease
2016 - 2017 ネマリンミオパチーの新規遺伝子同定
2013 - 2013 RNF213遺伝子変異陰性もやもや病のエキソーム解析
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Papers (234):
Takuma Ohashi, Hiroyoshi Kunimoto, Jun Nukui, Haruka Teshigawara, Satoshi Koyama, Takuya Miyazaki, Maki Hagihara, Kenji Matsumoto, Eriko Koshimizu, Naomi Tsuchida, et al. A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant. International Journal of Hematology. 2024
Masaaki Matsushima, Hiroaki Yaguchi, Eriko Koshimizu, Akihiko Kudo, Shinichi Shirai, Takeshi Matsuoka, Shigehisa Ura, Atsushi Kawashima, Toshiyuki Fukazawa, Satoko Miyatake, et al. FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients. Journal of neurology. 2024
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
Shizuka Harada, Yoshiteru Azuma, Yohei Misumi, Hirotaka Hayashi, Soichiro Matsubara, Keiichi Nakahara, Satoko Miyatake, Naomichi Matsumoto, Mitsuharu Ueda. A Novel Mutation of VPS13D-related Disorders with Parkinsonism. Internal Medicine. 2024
2007 - 2012 Yokohama City University Graduate Graduate School of Medicine
1992 - 1998 Nagasaki University School of Medicine School of Medical Sciences
Professional career (1):
医学博士(甲号) (横浜市立大学大学院)
Work history (3):
2022/04 - 現在 横浜市立大学附属病院遺伝子診療科 准教授
2017/04 - 現在 横浜市立大学
2015/04 - 2017/03 横浜市立大学
Committee career (3):
2024 - 日本人類遺伝学会 遺伝学的検査委員会
2021 - 日本人類遺伝学会 将来構想委員会
2020 - 日本人類遺伝学会 評議員
Awards (6):
2023/03 - Yokohama City University 理事長・学長表彰(教員部門)
2020/11 - the Journal of Human Genetics Young Scientist Award ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome
2017 - 横浜市立大学医学会 医学会賞
2017 - 日本人類遺伝学会 奨励賞
2017 - 日本神経学会 学会賞 学術研究部門
2012/05 - 日本神経学会 第53回日本神経学会学術大会最優秀口演賞
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Association Membership(s) (4):
THE JAPANESE SOCIETY FOR GENETIC COUNSELING
, THE JAPAN SOCIETY OF HUMAN GENETICS
, THE JAPANESE SOCIETY OF INTERNAL MEDICINE
, JAPANESE SOCIETY OF NEUROLOGY