Hiroshi Matsumoto

Monoallelic <i>BUB1B</i> mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Shinya Matsuura, Yoshiyuki Matsumoto, Ken‐ichi Morishima et al. · American Journal of Medical Genetics Part A · 2006 · 176 citations

Life Sciences, Genetics, Molecular Genetics +15

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Hirotomo Saitsu, Miho Watanabe, Tenpei Akita et al. · Scientific Reports · 2016 · 103 citations · Full text

Medicine, Genetics, Neurology +17

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Application of ion-exchange cartridge clean-up in food analysis

Yuko Ito, Hisao Oka, Yoshitomo Ikai et al. · Journal of Chromatography A · 2000 · 65 citations

Natural Sciences, Chemistry, Food Science +14

Clinical practice guidance for next‐generation sequencing in cancer diagnosis and treatment (Edition 1.0)

Kuniko Sunami, Hideaki Takahashi, Katsuya Tsuchihara et al. · Cancer Science · 2018 · 58 citations · Full text

Medicine, Molecular Medicine, Oncology +17