Associated Papers
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.
Lewis RG et al.
Bmc Medical Genomics, 2025
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.
Li X et al.
Pediatric Investigation, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
40139194 (PubMed )
Supplement: mmc2.pdf
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI et al.
Orphanet Journal of Rare Diseases, 2022
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.
Masciadri M et al.
Frontiers in Neurology, 2018
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Nizon M et al.
Clinical Genetics, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME et al.
Biomed Research International, 2016
Select a paper to view details