Satoru Sakazume

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

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Life Sciences, Genetics, Molecular Genetics +14

Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori et al. · Human Mutation · 2010 · 126 citations

Life Sciences, Genetics, Molecular Genetics +13

Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment

Toshiro Nagai, Kyoichi Obata, H. Tonoki et al. · American Journal of Medical Genetics Part A · 2005 · 114 citations

Medicine, Endocrinology, Pediatrics +11

Postnatal overgrowth by 15q‐trisomy and intrauterine growth retardation by 15q‐monosomy due to familial translocation t(13;15): Dosage effect of <i>IGF1R</i>?

Toshiro Nagai, Osamu Shimokawa, Naoki Harada et al. · American Journal of Medical Genetics · 2002 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17