Nobuhiko Okamoto

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

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations

Life Sciences, Genetics, Molecular Genetics +11

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

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

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 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam, Siddharth Banka, Hans T. Björnsson et al. · Journal of Medical Genetics · 2018 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

KDM6A Point Mutations Cause Kabuki Syndrome

Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto et al. · Human Mutation · 2012 · 218 citations

Life Sciences, Genetics, Molecular Genetics +16