Yoshimitsu Fukushima

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

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 534 citations

Developmental Anomaly, Developmental Biology, Protruding Ears +6

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

Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein.

Hirofumi Fukumoto, Susumu Seino, Hiroo Imura et al. · Proceedings of the National Academy of Sciences · 1988 · 425 citations · Full text

Molecular Biology, Molecular Genetics, Cellular Physiology +21