Faculty Information : Hamamatsu University School of Medicine

Basic information on teaching staff

Career

2001/5/- 長崎大学
2002/6/- 愛媛県立中央病院
2003/5/- 長崎大学
2008/9/- 東京大学
2012/4/- 横浜市立大学
2017/4/- 現職

Research Areas

Life Science - Medical biochemistry

Life Science - Genetics

Subject of research

[1]. ヒト先天性疾患の分子遺伝学
[2]. ヒト疾患感受性領域の遺伝子多型解析

Research Projects (Competitive Research Funds)

[1]. 翻訳開始因子障害による神経発達症の病態解明
[2]. 尿試料由来iPS 細胞を用いたアクチン動態異常に伴うてんかん病態の解明

Research activities

Papers

[1]. Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome.
Brain & development [Volume]46 [Issue]3 [Page]154 -159 （2024/） [Reviewed] Yes [DOI]

[2]. Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
American journal of medical genetics. Part A [Volume]194 [Issue]3 [Page]e63453 （2024/） [Reviewed] Yes [DOI]

[3]. Genetic analysis of epileptogenic brain lesions
EUROPEAN JOURNAL OF HUMAN GENETICS [Volume]32 [Page]204 -205 （2024/） [Reviewed] Yes

[4]. A CASE OF B CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA DEVELOPED IN A BOY WITH TUBB2A VARIANT-RELATED LISSENCEPHALY
PEDIATRIC BLOOD & CANCER [Volume]71 [Page]S103 -S103 （2024/） [Reviewed] Yes

[5]. Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics [Volume]25 [Issue]1 [Page]3 -11 （2024/） [Reviewed] Yes [DOI]

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Research presentations

[1]. 2020/11/18 De novo variants in CUL3 are associated with global developmental delays with or without infantile spasm. The 65th Annual Meeting of the Japan Society of Human Genetics

[2]. 2020/11/18 様々な遺伝モデルのヒト疾患における遺伝要因の解明 The 65th Annual Meeting of the Japan Society of Human Genetics

[3]. 2019/11/ てんかん発作を伴う全般性発達遅滞症例におけるde novo CSNK2Bバリアントの同定日本人類遺伝学会第64回大会

[4]. 2018/10/ De Novo Hotspot Variants in CYFIP2 Cause Early-Onset Epileptic Encephalopathy 日本人類遺伝学会第63回大会

[5]. 2017/11/ 全エクソーム解析を用いた希少難治性てんかん1230例の包括的遺伝子解析日本人類遺伝学会第62回大会

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Prizes

[1]. 2020/11/18 奨励賞

Memberships of academic societies

[1]. 日本人類遺伝学会

[2]. 日本先天異常学会

Educational activities

Allotted class

[1]. 分子基礎医学

[2]. 人類遺伝学

[3]. 生化学

[4]. 遺伝子医療と再生医療

[5]. 生化学