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

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Nature genetics - 1 Dec 2012

Xu Bin, Ionita-Laza Iuliana, Roos J Louw, Boone Braden, Woodrick Scarlet, Sun Yan, Levy Shawn, Gogos Joseph A, Karayiorgou Maria

Abstract excerpt

To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high coverage the exomes of families recruited from two populations with distinct demographic structures and history. We sequenced a total of 795 exomes from 231 parent-proband trios enriched for sporadic schizophrenia cases, as well as 34 unaffected trios. We observed in cases an excess of de novo nonsynonymous single-nucleotide...

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 Autophagy-Related Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dihydrouracil Dehydrogenase (NADP)

Share to Intracellular Signaling Peptides and Proteins

Share to Laminin

Share to South Africa

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23042115
DOI: 10.1038/ng.2446
PMCID: PMC3556813

Genes

DPYD
LAMA2
TRRAP
VPS39

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.PMID 23042115Read ↗

Exome sequencing supports a de novo mutational paradigm for schizophrenia.Semantic proximity Read ↗

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.Semantic proximity Read ↗

Increased exonic de novo mutation rate in individuals with schizophrenia.Semantic proximity Read ↗

De novo mutations in human genetic disease.Semantic proximity Read ↗

De novo mutation in schizophrenia.Semantic proximity Read ↗

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.Semantic proximity Read ↗

De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample.Semantic proximity Read ↗

Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations.Semantic proximity Read ↗

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.Semantic proximity Read ↗

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

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.Semantic proximity Read ↗

Recent ultra-rare inherited mutations identify novel autism candidate risk genesSemantic proximity Read ↗

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