Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 656 citations

Life Sciences, Genetics, Molecular Genetics +3

The protein encoded by the Drosophila position‐effect variegation suppressor gene Su(var)3‐9 combines domains of antagonistic regulators of homeotic gene complexes.

B Tschiersch, Annemarie Hofmann, Rainer Dorn et al. · The EMBO Journal · 1994 · 562 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Sotos syndrome: a study of the diagnostic criteria and natural history.

Trevor Cole, Helen E. Hughes · Journal of Medical Genetics · 1994 · 313 citations · Full text

Medicine, Genetics, Pediatrics +12

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple et al. · The American Journal of Human Genetics · 2003 · 301 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

The EMBO Journal · 1998 · 264 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14