ReviewCurrent opinion in genetics & development2021
Copy number variation and neuropsychiatric illness.
Review in Current opinion in genetics & development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 4 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- Neuroimaging Insights into the Public Health Burden of Neuropsychiatric Disorders: A Systematic Review of Electroencephalography-Based Cognitive Biomarkers.Medicina (Kaunas, Lithuania) · 2025Pooled it
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Shared genetic components between metabolic syndrome and schizophrenia: Genetic correlation using multipopulation data sets.Psychiatry and clinical neurosciences · 2022Pooled it
- What genes are differentially expressed in individuals with schizophrenia? A systematic review.Molecular psychiatry · 2022Pooled it
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Genomic Copy Number Variants Associated With Strabismus and Amblyopia in the All of Us Research Program.Investigative ophthalmology & visual science · 2026Article
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.Annals of laboratory medicine · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.Internal medicine (Tokyo, Japan) · 2025Article
- Recent findings and future directions for the intersection of genetic and environmental contributions to schizophrenia.Genomic psychiatry : advancing science from genes to society · 2025Article
- Systematic benchmarking of tools for structural variation detection using short- and long-read sequencing data in pigs.iScience · 2025Article
- Childhood trajectories of emotional and behavioral difficulties are related to polygenic liability for mood and anxiety disorders.Journal of child psychology and psychiatry, and allied disciplines · 2025Article
- Comparison of autism domains across thirty rare variant genotypes.EBioMedicine · 2025Article
- Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter.International journal of molecular sciences · 2025Article
- Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy.Disease models & mechanisms · 2024Article
- Genome-Wide Scan for Copy Number Variations in Chinese Merino Sheep Based on Ovine High-Density 600K SNP Arrays.Animals : an open access journal from MDPI · 2024Article
- Copy number deletion of PLA2G4A affects the susceptibility and clinical phenotypes of schizophrenia.Schizophrenia (Heidelberg, Germany) · 2024Article
- Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients.Imaging neuroscience (Cambridge, Mass.) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (<0.5% frequency), have high effect sizes, and show pleiotropic effects for multiple neuropsychiatric disorders, which implies a shared aetiology. Neuropsychiatric CNVs are also associated with cognitive impairment and other medical morbidities, such as heart defects and obesity. As most neuropsychiatric CNVs are multigenic, it has been challenging to map their effects onto specific biological processes, although gene-set analyses have implicated genes related to the synapse and chromatin regulation. However, future whole-genome sequencing studies have potential for identifying novel single-gene CNV associations, which could provide insights into the pathophysiology underlying neuropsychiatric disorders.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.