Associated Papers
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation, 2025
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
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
Zuin J et al.
Plos Genetics, 2017
29261648 (PubMed )
Supplement: pgen.1007137.s008.pdf
A cohesin-independent role for NIPBL at promoters provides insights in CdLS.
Zuin J et al.
Plos Genetics, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 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
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J et al.
Plos Biology, 2009
19468298 (PubMed )
Supplement: pbio.1000119.s005.pdf
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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