Associated Papers
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.
Vilella T et al.
Bmc Ophthalmology, 2025
Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.
Di Nardo M et al.
Cells, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.
Kaur A et al.
Journal of Pediatric Genetics, 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
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
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A et al.
Scientific Reports, 2021
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Olley G et al.
Nature Communications, 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
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
Yuen KC et al.
Cell Reports, 2016
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M et al.
Journal of Medical Genetics, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
Oliveira J et al.
Human Mutation, 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
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2005
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA et al.
American Journal of Human Genetics, 2004