Associated Papers
Recombination junctions from antibody isotype switching classify immune and DNA repair dysfunction.
Vázquez García C et al.
Nature Communications, 2025
41419734 (PubMed )
Supplement: 41467_2025_67206_MOESM4_ESM.xlsx › Table_S1
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.
Garcia P 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
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J et al.
American Journal of Medical Genetics. Part A, 2017
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Pié J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C et al.
European Journal of Medical Genetics, 2014
Select a paper to view details