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
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
Brennan K et al.
Human Molecular Genetics, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Rashid M et al.
Nature Communications, 2019
31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM2_ESM.pdf
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
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Ha K et al.
Genes, 2016
NSD1 mutations generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.
Kudithipudi S et al.
Chemistry & Biology, 2014
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.
Berdasco M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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
Select a paper to view details