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

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

PloS one - 1 Jan 2017

Giacopuzzi Edoardo, Gennarelli Massimo, Minelli Alessandra, Gardella Rita, Valsecchi Paolo, Traversa Michele, Bonvicini Cristian, Vita Antonio, Sacchetti Emilio, Magri Chiara

Abstract excerpt

Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to gamma-Aminobutyric Acid

Share to Glutamic Acid

Share to Homozygote

Share to Inbreeding

Share to Schizophrenia

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28787007
DOI: 10.1371/journal.pone.0182778
PMCID: PMC5546675

Genes

ANO2
FMN1
GAD1
MEGF8

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

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.PMID 28787007Read ↗

Age dependent association of inbreeding with risk for schizophrenia in Egypt.Semantic proximity Read ↗

Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.Semantic proximity Read ↗

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.Semantic proximity Read ↗

Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred.Semantic proximity Read ↗

Long runs of homozygosity are enriched for deleterious variation.Semantic proximity Read ↗

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.Semantic proximity Read ↗

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.Semantic proximity Read ↗

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromesSemantic proximity Read ↗

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Semantic proximity Read ↗

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.Semantic proximity Read ↗

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.Semantic proximity Read ↗

FSuite: exploiting inbreeding in dense SNP chip and exome data.Semantic proximity Read ↗

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