Hiroshi Kawame

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

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

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Masao Nagasaki, Jun Yasuda, Fumiki Katsuoka et al. · Nature Communications · 2015 · 427 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Tohoku Medical Megabank Project: Design and Mission

Shinichi Kuriyama, Nobuo Yaegashi, Fuji Nagami et al. · Journal of Epidemiology · 2016 · 380 citations · Full text

Public Health, Health Sciences, Disaster Medicine +14

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