Associated Papers
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15
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
36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1
Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
Kontbay T et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Hearing loss and brain disorders: A review of multiple pathologies.
Oluwole OG et al.
Open Medicine (warsaw, Poland), 2022
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.
Cui Y et al.
Plos One, 2021
34478472 (PubMed )
Supplement: pone.0256979.s002.xlsx › TCGA-HNSC
Sotos syndrome in two children from India.
Panigrahi I et al.
American Journal of Medical Genetics. Part A, 2020
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_MOESM7_ESM.xlsx › Peri_et_al._Suppl._Data_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 generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
26690673 (PubMed )
Supplement: ncomms10207-s2.xlsx › Suppl._Data_1
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
Sohn YB et al.
Journal of Human Genetics, 2013
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P et al.
Human Mutation, 2007
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