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

Rare germline variants in individuals diagnosed with schizophrenia within multiplex families.

Psychiatry research - 1 Sept 2021

Li Shangzhong, DeLisi Lynn E, McDonough Stefan I

Abstract excerpt

An extensive catalog of common and rare genetic variants contributes to overall risk for schizophrenia and related disorders. As a complement to population genetics efforts, here we present whole genome sequences of multiple affected probands within individual families to search for possible high penetrance driver variants. From a total of 15 families diagnostically evaluated by a single research psychiatrist, we...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ Cells

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Schizophrenia

Source

Identifiers

PMID: 34174581
DOI: 10.1016/j.psychres.2021.114038

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

Rare germline variants in individuals diagnosed with schizophrenia within multiplex families.PMID 34174581Read ↗

Rare schizophrenia risk variant burden is conserved in diverse human populationsSemantic proximity Read ↗

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.Semantic proximity Read ↗

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.Semantic proximity Read ↗

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

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

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.Semantic proximity Read ↗

Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on GeneticsSemantic proximity Read ↗

Genome-wide burden of deleterious coding variants increased in schizophrenia.Semantic proximity Read ↗

Schizophrenia: a common disease caused by multiple rare alleles.Semantic proximity Read ↗

Genetics of schizophrenia.Semantic proximity Read ↗

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.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 ↗

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