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

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.

Genes - 8 Jul 2021

Meerschaut Ilse, Vergult Sarah, Dheedene Annelies, Menten Björn, De Groote Katya, De Wilde Hans, Muiño Mosquera Laura, Panzer Joseph, Vandekerckhove Kristof, Coucke Paul J, De Wolf Daniël, Callewaert Bert

Abstract excerpt

Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly or through interference of gene expression. Recent studies in cancer and limb defects pinpointed the relevance of non-coding gene regulatory elements such as long non-coding RNAs (lncRNAs) and topologically associated domain (TAD)-related gene-enhancer interactions. The contribution of such non-coding elements is...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Genome, Human

Share to Heart Defects, Congenital

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34356064
DOI: 10.3390/genes12071048
PMCID: PMC8304049

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.PMID 34356064Read ↗

Identification of Long Non-coding RNA Candidate Disease Genes Associated with Clinically Reported CNVs in Congenital Heart DiseaseSemantic proximity Read ↗

Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease.Semantic proximity Read ↗

The importance of copy number variation in congenital heart diseaseSemantic proximity Read ↗

Copy-number variation in congenital heart disease.Semantic proximity Read ↗

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.Semantic proximity Read ↗

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Semantic proximity Read ↗

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseSemantic proximity Read ↗

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspectsSemantic proximity Read ↗

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family TriosSemantic proximity Read ↗

Copy-Number Variations, Noncoding Sequences, and Human PhenotypesSemantic proximity Read ↗

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.Semantic proximity Read ↗

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practiceSemantic proximity Read ↗

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