Associated Papers
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.
Cassinari K et al.
Genes & Diseases, 2025
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
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
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 epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
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
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A et al.
Journal of Applied 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
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
Rohatgi S et al.
American Journal of Medical Genetics. Part A, 2010
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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