Research field (2)：
, Medical biochemistry
Rumiko Izumi, Toshiaki Takahashi, Naoki Suzuki, Tetsuya Niihori, Hiroya Ono, Naoko Nakamura, Shinichi Katada, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki. The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain. Human mutation. 2020
Genetic syndromes associated with the Ras/MAPK pathway and the identification of mutations in a new gene, RIT1, for Noonan syndrome.
(Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway:Towards a Therapeutic Approach 2013)