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

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

American journal of human genetics - 7 Nov 2024

Auwerx Chiara, Moix Samuel, Kutalik Zoltán, Reymond Alexandre

Abstract excerpt

Whereas 16p11.2 BP4-5 copy-number variants (CNVs) represent one of the most pleiotropic etiologies of genomic syndromes in both clinical and population cohorts, the mechanisms leading to such pleiotropy remain understudied. Identifying 73 deletion and 89 duplication carrier individuals among unrelated White British UK Biobank participants, we performed a phenome-wide association study (PheWAS) between the...

Read the complete abstract on PubMed

Topics

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

Share to Body Mass Index
Share to Chromosome Deletion
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

Share to DNA Copy Number Variations

Share to Genetic Pleiotropy

Share to Mendelian Randomization Analysis

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 39332408
DOI: 10.1016/j.ajhg.2024.08.014
PMCID: PMC11568757

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.PMID 39332408Read ↗

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVsSemantic proximity Read ↗

The pleiotropic spectrum of proximal 16p11.2 CNVs.Semantic proximity Read ↗

Effects of pathogenic CNVs on physical traits in participants of the UK BiobankSemantic proximity Read ↗

The individual and global impact of copy number variants on complex human traitsSemantic proximity Read ↗

The individual and global impact of copy-number variants on complex human traits.Semantic proximity Read ↗

Copy-number variants as modulators of common disease susceptibilitySemantic proximity Read ↗

The impact of 22q11.2 copy number variants on human traits in the general populationSemantic proximity Read ↗

The impact of 22q11.2 copy-number variants on human traits in the general population.Semantic proximity Read ↗

Determinants of functional burden pleiotropy and gene dosage responses across human traitsSemantic proximity Read ↗

Determinants of pleiotropy and monotonic gene dosage responses across human traitsSemantic proximity Read ↗

Phenome-wide burden of copy number variation in UK BiobankSemantic proximity Read ↗

Determinants of pleiotropy and monotonic gene dosage responses across human traitsSemantic proximity Read ↗

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