Nobuhiko Okamoto

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

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

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam, Siddharth Banka, Hans T. Björnsson et al. · Journal of Medical Genetics · 2018 · 229 citations · Full text

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