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
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Gil-Salvador M et al.
Scientific Reports, 2025
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H et al.
European Journal of Pediatrics, 2024
Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
Chen J et al.
Genetics, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Gil-Salvador M et al.
Frontiers in Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Chinen Y et al.
Human Genome Variation, 2019
Prognostic impacts and dynamic changes of cohesin complex gene mutations in de novo acute myeloid leukemia.
Tsai CH et al.
Blood Cancer Journal, 2017
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.
Li S et al.
Nature Medicine, 2016
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
Yuen KC et al.
Cell Reports, 2016
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
Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.
Mannini L et al.
Scientific Reports, 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
Epileptic features in Cornelia de Lange syndrome: case report and literature review.
Pavlidis E et al.
Brain & Development, 2014
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
Gimigliano A et al.
Journal of Proteome Research, 2012
Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP et al.
American Journal of Medical Genetics. Part A, 2012
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
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
Rohatgi S 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
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E et al.
Human Molecular Genetics, 2009
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA et al.
American Journal of Human Genetics, 2007