Associated Papers
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
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
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
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Baquero-Montoya C et al.
Clinical Genetics, 2014
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