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 sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PLoS genetics - 1 Jan 2012

Chahrour Maria H, Yu Timothy W, Lim Elaine T, Ataman Bulent, Coulter Michael E, Hill R Sean, Stevens Christine R, Schubert Christian R, Greenberg Michael E, Gabriel Stacey B, Walsh Christopher A

Abstract excerpt

Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recessive mutations. Whole-exome sequencing of 16 probands revealed validated homozygous, potentially...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genome, Human

Share to Kruppel-Like Transcription Factors

Share to Neurons

Share to Oncogene Proteins

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 22511880
DOI: 10.1371/journal.pgen.1002635
PMCID: PMC3325173

Genes

CLTCL1
ZNF18

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

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.PMID 22511880Read ↗

Synaptic, transcriptional and chromatin genes disrupted in autism.Semantic proximity Read ↗

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Semantic proximity Read ↗

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.Semantic proximity Read ↗

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Semantic proximity Read ↗

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Semantic proximity Read ↗

Exome sequencing and the genetics of intellectual disability.Semantic proximity Read ↗

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.Semantic proximity Read ↗

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Semantic proximity Read ↗

Next-generation sequencing identifies novel gene variants and pathways involved in specific language impairmentSemantic proximity Read ↗

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorderSemantic proximity Read ↗

Comprehensive multiomic profiling of somatic mutations in malformations of cortical developmentSemantic proximity Read ↗

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.Semantic proximity Read ↗

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