Tsutomu Ogata

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Ercole Rao, Maki Fukami, Andreas Rump et al. · Nature Genetics · 1997 · 954 citations

Medicine, Genetics, Molecular Genetics +14

Rationale and study design of the Japan environment and children’s study (JECS)

Toshihiro Kawamoto, Hiroshi Nitta, Katsuyuki Murata et al. · BMC Public Health · 2014 · 839 citations · Full text

Public Health, Child Health, Environmental Sciences +17

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Kunio Kitamura, Masako Yanazawa, Noriyuki Sugiyama et al. · Nature Genetics · 2002 · 705 citations

Medicine, Genetics, Molecular Genetics +14

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Franck Court, Chiharu Tayama, Valeria Romanelli et al. · Genome Research · 2014 · 383 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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