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

Reaching a CNV milestone.

Nature genetics - 1 Oct 2014

Beaudet Arthur L

Abstract excerpt

A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Developmental Disabilities
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Source

Identifiers

PMID: 25257083
DOI: 10.1038/ng.3106

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25257083-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Reaching a CNV milestone.PMID 25257083Read ↗

A copy number variation morbidity map of developmental delay.Semantic proximity Read ↗

Refining analyses of copy number variation identifies specific genes associated with developmental delay.Semantic proximity Read ↗

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.Semantic proximity Read ↗

Coordination difficulties, IQ and psychopathology in children with high-risk copy number variants.Semantic proximity Read ↗

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Semantic proximity Read ↗

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Semantic proximity Read ↗

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders – the DDD-Africa studySemantic proximity Read ↗

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Semantic proximity Read ↗

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