Tetsuya Niihori

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa et al. · Journal of Human Genetics · 2010 · 732 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +6

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 664 citations

Genetic Disorder, Genetics, Pathogenesis +4

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

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

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 294 citations · Full text