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
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
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
Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.
Krawczynska N et al.
Frontiers in Pediatrics, 2019
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
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Huisman SA et al.
Journal of Medical Genetics, 2013
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A et al.
Journal of Applied Genetics, 2013
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