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

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.

Molecular psychiatry - 1 Aug 2014

Kenny E M, Cormican P, Furlong S, Heron E, Kenny G, Fahey C, Kelleher E, Ennis S, Tropea D, Anney R, Corvin A P, Donohoe G, Gallagher L, Gill M, Morris D W

Abstract excerpt

Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to Child Development Disorders, Pervasive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DISC1 gene

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Nerve Tissue Proteins

Share to Schizophrenia

Share to White People

Source

Identifiers

PMID: 24126926
DOI: 10.1038/mp.2013.127

Genes

DISC1

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

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.PMID 24126926Read ↗

Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.Semantic proximity Read ↗

Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants.Semantic proximity Read ↗

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Semantic proximity Read ↗

Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders.Semantic proximity Read ↗

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disordersSemantic proximity Read ↗

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.Semantic proximity Read ↗

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 CNV Mediated Risk for Neuropsychiatric DisordersSemantic proximity Read ↗

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.Semantic proximity Read ↗

Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutationsSemantic proximity Read ↗

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophreniaSemantic proximity Read ↗

Mapping genomic loci implicates genes and synaptic biology in schizophrenia.Semantic proximity Read ↗

Rare coding variants in ten genes confer substantial risk for schizophrenia.Semantic proximity Read ↗

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