Article

Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome

2022-09-19

Abstract excerpt

<h4>Aims</h4> This study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing had not identified a causative variant. <h4>Methods</h4> Short read, whole genome sequencing was performed in 195 individuals from 105 families, 108 of whom were affecte...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4334173f-4ed7-5c6c-81e0-695bb0fe19d8
DOI: 10.1101/2022.09.18.22277970

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange SyndromeDOI 10.1101/2022.09.18.22277970Read

Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndromeSemantic proximity Read

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.Semantic proximity Read

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Semantic proximity Read

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.Semantic proximity Read

Cornelia de Lange Spectrum.Semantic proximity Read

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.Semantic proximity Read

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Semantic proximity Read

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].Semantic proximity Read

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.Semantic proximity Read

Novel mosaic variants in two patients with Cornelia de Lange syndrome.Semantic proximity Read

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.Semantic proximity Read