Associated Papers
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.
Shan L et al.
Pediatric Research, 2025
40307499 (PubMed )
Supplement: 41390_2025_4085_MOESM1_ESM.xlsx › Sheet1
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
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J et al.
American Journal of Medical Genetics. Part A, 2017
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 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
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Yan J et al.
American Journal of Medical Genetics. Part A, 2006
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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