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 · 943 citations

Developmental Anomaly, Pseudoautosomal Deletions, Developmental Biology +9

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 · 800 citations · Full text

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 · 703 citations

Spermatogenesis, Knockout Mouse, Infertility +12

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 · 372 citations · Full text

Germline Methylation-independent Mechanism, Epigenetic Change, Genetics +18

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