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

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

American journal of human genetics - 13 Jul 2012

Luo Rui, Sanders Stephan J, Tian Yuan, Voineagu Irina, Huang Ni, Chu Su H, Klei Lambertus, Cai Chaochao, Ou Jing, Lowe Jennifer K, Hurles Matthew E, Devlin Bernie, State Matthew W, Geschwind Daniel H

Abstract excerpt

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored. Because brain tissue is not available from most samples, we interrogated gene expression in lymphoblasts from 244 families with discordant siblings in the Simons Simplex Collection in order to identify potentially pathogenic variation. Our...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child Development Disorders, Pervasive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosomes, Human, Pair 16

Share to DNA Copy Number Variations

Share to Gene Expression Profiling

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 22726847
DOI: 10.1016/j.ajhg.2012.05.011
PMCID: PMC3397271

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.PMID 22726847Read ↗

Integrated Functional Analysis Implicates Syndromic and Rare Copy Number Variation Genes as Prominent Molecular Players in Pathogenesis of Autism Spectrum Disorders.Semantic proximity Read ↗

Detection and characterization of copy number variation in autism spectrum disorder.Semantic proximity Read ↗

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16pSemantic proximity Read ↗

Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs.Semantic proximity Read ↗

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.Semantic proximity Read ↗

Exploiting aberrant mRNA expression in autism for gene discovery and diagnosisSemantic proximity Read ↗

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.Semantic proximity Read ↗

Functional impact of global rare copy number variation in autism spectrum disorders.Semantic proximity Read ↗

Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis.Semantic proximity Read ↗

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletionSemantic proximity Read ↗

Structural variation of chromosomes in autism spectrum disorder.Semantic proximity Read ↗

A critical review of the impact of candidate copy number variants on autism spectrum disorder.Semantic proximity Read ↗

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