ゲノム医療部門
研究業績
  1. Kubota T, Nagata M, Takagi K, Ishihara Y, Kojima K, Uchikura Y, Yamamoto R, Yonei A, Ozaki E, Kira N, Takahashi S, Homma K, Miyashita Y, Eguchi-Ishimae M, Sakai N, Asano Y, Sakata Y, Ozono K, Eguchi M, Takahashi MP. Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants. Journal of Human Genetics. 70, 3-8, 2025.
  2. Shimomura R, Kihara Y, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishihara Y, Nagata M, Miyashita Y, Asano Y, Ishigaki K, Nagata S, Yamamoto T. Challenges in genetic counseling for RYR1-related myopathies. Brain & Development. 47, 104363, 2025.