ReviewJournal of human genetics2021
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.
Review in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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
21 citing papers in PubMed, 31 citations in OpenAlex.
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
- Resolving the Haplotype Complexity of Colorectal Cancer Genomes with Droplet Barcode Sequencing.Life (Basel, Switzerland) · 2026Article
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.Nagoya journal of medical science · 2025Review
- Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.Psychiatry and clinical neurosciences · 2025Article
- Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects.Neuropsychopharmacology reports · 2024Article
- Analysis of human neuronal cells carrying ASTN2 deletion associated with psychiatric disorders.Translational psychiatry · 2024Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.Neuropsychopharmacology reports · 2023Article
- Characterization of loss of chromosome Y in peripheral blood cells in male Han Chinese patients with schizophrenia.BMC psychiatry · 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
- Clinical manifestations of schizophrenia in four patients with variants in voltage-gated calcium channel-encoding genes: a case series.Psychiatry and clinical neurosciences · 2023Article
- Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.Translational psychiatry · 2022Article
- Trends in big data analyses by multicenter collaborative translational research in psychiatry.Psychiatry and clinical neurosciences · 2022Review
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
- Genetics of autosomal mosaic chromosomal alteration (mCA).Journal of human genetics · 2021Review
- Dysregulation of post-transcriptional modification by copy number variable microRNAs in schizophrenia with enhanced glycation stress.Translational psychiatry · 2021Article
- Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.Journal of medical genetics · 2021Review
- Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.Translational psychiatry · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Copy number variants (CNVs), defined as genome sequences of ≥50 bp that differ in copy number from that in a reference genome, are a common form of structural variation. Germline CNVs account for some of the missing heritability that single nucleotide polymorphisms could not account for. Recent technological advances have had a huge impact on CNV research. Microarray technology enables relatively low-cost, high-throughput, genome-wide measurements, and short-read sequencing technology enables the detection of short CNVs that cannot be detected by microarrays. As a result, large-scale genetic studies have been able to identify a variety of common and rare germline CNVs and their associations with diseases. Rare germline CNVs have been reported to be associated with neuropsychiatric disorders. In this review, we focused on germline CNVs and briefly described their functional characteristics, formation mechanisms, detection methods, related databases, and the latest findings. Finally, we introduced recent large-scale genetic studies to assess associations of CNVs with diseases, especially psychiatric disorders, and discussed the use of CNV-based animal models to investigate the molecular and cellular mechanisms underlying these disorders. The development and implementation of improved detection methods, such as long-read single-molecule sequencing, are expected to provide additional insight into the molecular basis of psychiatric disorders and other complex diseases, thus facilitating basic and clinical research on CNVs.
Indexed as
Identifiers
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.