ArticleJournal of psychiatric research2010
Clinically detectable copy number variations in a Canadian catchment population of schizophrenia.
Article in Journal of psychiatric research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 72 citations in OpenAlex.
- The Role of the Ketogenic Diet in Modulating Biochemical Pathophysiology in Psychiatric and Neurodegenerative Disorders.International journal of molecular sciences · 2026Review
- Auditory evoked-potential abnormalities in a mouse model of 22q11.2 Deletion Syndrome and their interactions with hearing impairment.Translational psychiatry · 2025Article
- Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.Journal of neurodevelopmental disorders · 2024Article
- Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.Molecular psychiatry · 2023Article
- Multifaceted Regulation of MicroRNA Biogenesis: Essential Roles and Functional Integration in Neuronal and Glial Development.International journal of molecular sciences · 2021Review
- All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders.Current opinion in genetics & development · 2021Review
- Schizophrenia-related microdeletion causes defective ciliary motility and brain ventricle enlargement via microRNA-dependent mechanisms in mice.Nature communications · 2020Article
- miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation.Scientific reports · 2019Article
- PKA activation and endothelial claudin-5 breakdown in the schizophrenic prefrontal cortex.Oncotarget · 2017Article
- White matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. Neuroimaging · 2017Article
- Accumulation of minor alleles and risk prediction in schizophrenia.Scientific reports · 2017Article
- Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.International journal of molecular sciences · 2017Article
- Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.The Lancet. Neurology · 2016Article
- iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function.BMC biology · 2015Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Response to clozapine in a clinically identifiable subtype of schizophrenia.The British journal of psychiatry : the journal of mental science · 2015Observational
- Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.Biological psychiatry · 2015Article
- Child psychiatry branch of the National Institute of Mental Health longitudinal structural magnetic resonance imaging study of human brain development.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2015Review
- Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.Clinical endocrinology · 2014Article
- Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2014Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Copy number variation (CNV) is a highly topical area of research in schizophrenia, but the clinical relevance is uncertain and the translation to clinical practice is under-studied. There is a paucity of research involving truly community-based samples of schizophrenia and widely available laboratory techniques. Our objective was to determine the prevalence of clinically detectable CNVs in a community sample of schizophrenia, while mimicking typical clinical practice conditions. We used a brief clinical screening protocol for developmental features in adults with schizophrenia for identifying individuals with 22q11.2 deletions and karyotypically detectable chromosomal anomalies in 204 consecutive patients with schizophrenia from a single Canadian catchment area. Twenty-seven (13.2%) subjects met clinical criteria for a possible syndrome, and 26 of these individuals received clinical genetic testing. Five of these, representing 2.5% of the total sample (95% CI: 0.3%-4.6%), including two of ten patients with mental retardation, had clinically detectable anomalies: two 22q11.2 deletions (1.0%), one 47, XYY, and two other novel CNVs--an 8p23.3-p23.1 deletion and a de novo 19p13.3-p13.2 duplication. The results support the utility of screening and genetic testing to identify genetic syndromes in adults with schizophrenia in clinical practice. Identifying large, rare CNVs (particularly 22q11.2 deletions) can lead to significant changes in management, follow-up, and genetic counselling that are helpful to the patient, family, and clinicians.
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