Associated Papers
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
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A et al.
International Journal of Molecular Sciences, 2020
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 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
Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.
Krawczynska N et al.
Frontiers in Pediatrics, 2019
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
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
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 2015
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
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