Associated Papers
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G et al.
Diagnostics (basel, Switzerland), 2024
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.
Lourdes VH et al.
Frontiers in Pediatrics, 2023
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
Seizures in Sotos syndrome: Phenotyping in 49 patients.
Fortin O et al.
Epilepsia Open, 2021
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
Zhang Y et al.
Scientific Reports, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR et al.
Genome Research, 2019
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
NSD1 mutations generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
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
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