Seiji Mizuno

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 515 citations

Mendelian Disorder, Translational Biology, Disease Mechanism +6

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo et al. · The American Journal of Human Genetics · 2013 · 328 citations · Full text

Signal Transduction, Autoimmune Disease, Genetic Disorder +6

Development of Compact and High-Performance Fuel Cell Stack

Norishige Konno, Seiji Mizuno, Hiroya Nakaji et al. · SAE International journal of alternative powertrains · 2015 · 284 citations

KDM6A Point Mutations Cause Kabuki Syndrome

Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto et al. · Human Mutation · 2012 · 210 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 174 citations · Full text