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
Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.
Cyrta J et al.
The Journal of Pathology, 2022
35220606 (PubMed )
Supplement: PATH-257-274-s001.xlsx › S3_WES_SNV-clonality
Seizures in Sotos syndrome: Phenotyping in 49 patients.
Fortin O et al.
Epilepsia Open, 2021
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
29176703 (PubMed )
Supplement: 41467_2017_1877_MOESM13_ESM.xlsx › Peri_et_al._Suppl._Data_11
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
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K et al.
American Journal of Human Genetics, 2005
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M et al.
Journal of Medical Genetics, 2003
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