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
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch M et al.
Nature Communications, 2018
30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6A.EXONIC_SNV_VALIDATION
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
Barkova E et al.
Clinical Genetics, 2015
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Dempsey MA et al.
Prenatal Diagnosis, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Huisman SA et al.
Journal of Medical Genetics, 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
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
Chong K et al.
Prenatal Diagnosis, 2009
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni A et al.
Clinical Genetics, 2007
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
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