Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R Nitta, et al. Novel ITPA variants identified by whole genome sequencing and RNA sequencing. Journal of human genetics. 2023. 68. 9. 649-652
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, et al. Strategic validation of variants of uncertain significance in ECHS1 genetic testing. Journal of medical genetics. 2023
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, et al. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. Molecular genetics and metabolism reports. 2022. 33. 100912-100912
Atsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, et al. Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. Journal of inherited metabolic disease. 2022. 45. 6. 1143-1150
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, et al. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A. Mitochondrion. 2021. 63. 1-8
