Associated Papers
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.
Li X et al.
Pediatric Investigation, 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
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA
Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
Liu C et al.
Molecular Genetics & Genomic Medicine, 2020
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S2.xlsx › Sheet1
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 2015
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP et al.
American Journal of Medical Genetics. Part A, 2012
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Borck G et al.
Journal of Medical Genetics, 2004
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.
Ben-Asher E et al.
The Israel Medical Association Journal : Imaj, 2004
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