Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

European journal of human genetics : EJHG - 1 Jun 2018

Egloff Matthieu, Nguyen Lam-Son, Siquier-Pernet Karine, Cormier-Daire Valérie, Baujat Geneviève, Attié-Bitach Tania, Bole-Feysot Christine, Nitschke Patrick, Vekemans Michel, Colleaux Laurence, Malan Valérie

Abstract excerpt

Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including unmasking of a recessive variant by a chromosomal deletion. Here, 19 patients with neurodevelopmental disorders harboring a rare deletion inherited from a healthy parent were investigated by whole-exome sequencing to search for SNV on the contralateral segment....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genes, Recessive

Share to Infant

Share to Neurodevelopmental Disorders

Share to Nuclear Pore Complex Proteins

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 29483668
DOI: 10.1038/s41431-018-0124-4
PMCID: PMC5974246

Genes

NCOR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.PMID 29483668Read ↗

Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.Semantic proximity Read ↗

The diagnostic yield of intellectual disability: Combined whole genome low-coverage sequencing and medical exome sequencingSemantic proximity Read ↗

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsSemantic proximity Read ↗

Novel Copy Number Deletion involving NUS1 associated with Epilepsy, Tremor, and Intellectual DisabilitySemantic proximity Read ↗

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Semantic proximity Read ↗

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsySemantic proximity Read ↗

Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesSemantic proximity Read ↗

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.Semantic proximity Read ↗

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.Semantic proximity Read ↗

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.Semantic proximity Read ↗

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.Semantic proximity Read ↗

Reanalysis of Whole Genome Sequencing Resolves Genetically Undiagnosed Patients With "RNUopathies".Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.