Toshiro Nagai

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

Yoshihiro Onouchi, Tomohiko Gunji, Jane C. Burns et al. · Nature Genetics · 2007 · 517 citations · Full text

Cardiovascular Disease, Kawasaki Disease Susceptibility, Genetic Epidemiology +9

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 515 citations

Mendelian Disorder, Translational Biology, Disease Mechanism +6

A genome-wide association study identifies three new risk loci for Kawasaki disease

Yoshihiro Onouchi, Kouichi Ozaki, Jane C. Burns et al. · Nature Genetics · 2012 · 334 citations

Genome-wide Association Study, Disease Susceptibility, Medicine +10

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +4