Yoichi Matsubara

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 · 751 citations

Life Sciences, Genetics, Molecular Genetics +9

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 674 citations

Life Sciences, Genetics, Molecular Genetics +14

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

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

Homozygous c.14576G&gt;A variant of <i>RNF213</i> predicts early-onset and severe form of moyamoya disease

Satoko Miyatake, Noriko Miyake, Hajime Touho et al. · Neurology · 2012 · 303 citations

Life Sciences, Genetics, Molecular Genetics +17