Associated Papers
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J et al.
American Journal of Human Genetics, 2003
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