Associated Papers
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.
Astorino MF et al.
Genes, 2025
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N et al.
American Journal of Medical Genetics. Part A, 2015
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH et al.
European Journal of Medical Genetics, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 2015
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E et al.
The Journal of Experimental Medicine, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C et al.
American Journal of Medical Genetics. Part A, 2013
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
Mannini L et al.
American Journal of Medical Genetics. Part A, 2012
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
Limongelli G et al.
American Journal of Medical Genetics. Part A, 2010
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Mannini L et al.
Human Mutation, 2010
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J et al.
Human Mutation, 2009
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Borck G et al.
Human Mutation, 2007
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