Naohiro Kurotaki

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

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa et al. · Human Mutation · 2003 · 137 citations

Down Syndrome, Sotos Syndrome, Developmental Anomaly +14

Nonsense mutation in <i>CFAP43</i> causes normal-pressure hydrocephalus with ciliary abnormalities

Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita et al. · Neurology · 2019 · 101 citations · Full text

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

Naohiro Kurotaki, Naoki Harada, Koh-ichiro Yoshiura et al. · Gene · 2001 · 95 citations

Knockout Mouse, Molecular Characterization, Mouse Nsd1 Gene +9

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita et al. · Journal of Human Genetics · 2012 · 93 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +6