ArticleHuman molecular genetics2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 6 of them syntheses that pooled it.
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Who cites it
89 citing papers in PubMed, 6 syntheses or guidelines pooled it, 135 citations in OpenAlex.
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Association Between REELIN Gene Polymorphisms (rs7341475 and rs262355) and Risk of Schizophrenia: an Updated Meta-analysis.Journal of molecular neuroscience : MN · 2021Pooled it
- Mental health dished up-the use of iPSC models in neuropsychiatric research.Journal of neural transmission (Vienna, Austria : 1996) · 2020Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- The 3q29 deletion confers >40-fold increase in risk for schizophrenia.Molecular psychiatry · 2015Pooled it
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting thePediatric reports · 2026Article
- The Molecular Machinery of Synaptic Plasticity and Its Potential Role in the Aetiology of Schizophrenia.Molecular neurobiology · 2026Review
- Zygosity-Dependent Phenotypic Spectrum ofHuman mutation · 2026Article
- SNP-based prediction of schizophrenia using machine learning.Bioinformatics advances · 2026Article
- Schizophrenia-associated 22q11.2 deletion elevates striatal acetylcholine and disrupts thalamostriatal projections to produce amotivation in mice.bioRxiv : the preprint server for biology · 2025Article
- Auts2 enhances neurogenesis and promotes expansion of the cerebral cortex.Journal of advanced research · 2025Article
- Brain Transcriptome Changes Associated With an Acute Increase of Protein O-GlcNAcylation and Implications for Neurodegenerative Disease.Journal of neurochemistry · 2025Article
- Altered Rbfox1-Vamp1 pathway and prefrontal cortical dysfunction in schizophrenia.Molecular psychiatry · 2024Article
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- Copy Number Variations and Schizophrenia.Molecular neurobiology · 2023Review
- Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.Frontiers in molecular neuroscience · 2023Article
- X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization.Psychiatry and clinical neurosciences · 2022Article
29 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
Individually rare, large copy number variants (CNVs) contribute to genetic vulnerability for schizophrenia. Unresolved questions remain, however, regarding the anticipated yield of clinical microarray testing in schizophrenia. Using high-resolution genome-wide microarrays and rigorous methods, we investigated rare CNVs in a prospectively recruited community-based cohort of 459 unrelated adults with schizophrenia and estimated the minimum prevalence of clinically significant CNVs that would be detectable on a clinical microarray. A blinded review by two independent clinical cytogenetic laboratory directors of all large (>500 kb) rare CNVs in cases and well-matched controls showed that those deemed to be clinically significant were highly enriched in schizophrenia (16.4-fold increase, P < 0.0001). In a single community catchment area, the prevalence of individuals with these CNVs was 8.1%. Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia for the first time, compared with the prevalence in 23 838 population-based controls (42.9-fold increase, P = 0.0002). Additional novel findings that will facilitate the future clinical interpretation of smaller CNVs in schizophrenia include: (i) a greater proportion of individuals with two or more rare exonic CNVs >10 kb in size (1.5-fold increase, P = 0.0109) in schizophrenia; (ii) the systematic discovery of new candidate genes for schizophrenia; and, (iii) functional gene enrichment mapping highlighting a differential impact in schizophrenia of rare exonic deletions involving diverse functions, including neurodevelopmental and synaptic processes (4.7-fold increase, P = 0.0060). These findings suggest consideration of a potential role for clinical microarray testing in schizophrenia, as is now the suggested standard of care for related developmental disorders like autism.
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Registered trials
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