自閉スペクトラム症のゲノムサンプルを豊富に保有しており、いくつかの成果を上げています。特に日本で初めて自閉スペクトラム症の30トリオのエクソームシークエンス解析を行い、De novo(新規)の変異を発見しました。また、その変異の機能も同定し、動物モデルなどにおける検証に進んでいます。
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