Kenji Kurosawa

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

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

Masayo Kagami, Yoichi Sekita, Gen Nishimura et al. · Nature Genetics · 2008 · 288 citations

Developmental Biology, Genetic Disorder, Genetics +7

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal, Kati J. Buckingham, Sarah Ng et al. · American Journal of Medical Genetics Part A · 2011 · 192 citations · Full text