Associated Papers
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
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
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
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.
Li S et al.
Molecular Genetics & Genomic Medicine, 2020
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
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
Tang H et al.
Orphanet Journal of Rare Diseases, 2019
[NIPBL gene mutations in two children with Cornelia de Lange syndrome].
Zhao YJ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E et al.
The Journal of Experimental Medicine, 2013
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A et al.
Journal of Applied Genetics, 2013
Mutation analysis in Chinese patients with Cornelia de Lange syndrome.
Zhong Q et al.
Genetic Testing and Molecular Biomarkers, 2012