ArticleCurrent genetic medicine reports2017
Copy Number Variation Disorders.
Article in Current genetic medicine reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Robust and generalizable CNV detection for single-cell sequencing assays.Nucleic acids research · 2026Article
- GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis.Briefings in bioinformatics · 2026Article
- Pathological Insights into Neurodegenerative and Neurodevelopmental Disorders: Perspectives for the Development of Novel Treatment Approaches.CNS & neurological disorders drug targets · 2026Review
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- Copy Number Variant Duplications Associated with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Analytical Validation of a Genomic Newborn Screening Workflow.International journal of neonatal screening · 2025Article
- Review
- Improved breast cancer risk prediction using chromosomal-scale length variation.Human genomics · 2025Article
- Transforming Pharmacogenomics and CRISPR Gene Editing with the Power of Artificial Intelligence for Precision Medicine.Pharmaceutics · 2025Review
- Efficient and easy gene expression and genetic variation data analysis and visualization using exvar.Scientific reports · 2025Article
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Copy Number Variation in Asthma: An Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- Identification and characterization of spontaneous AA amyloidosis in CD-1 mice used in toxicity studies: implications of SAA1 and SAA2 copy number variations.Journal of toxicologic pathology · 2025Article
- Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Article
- Downstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast.iScience · 2024Article
- Radiogenomics Pilot Study: Association Between Radiomics and Single Nucleotide Polymorphism-Based Microarray Copy Number Variation in Diagnosing Renal Oncocytoma and Chromophobe Renal Cell Carcinoma.International journal of molecular sciences · 2024Article
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.BMC medical genomics · 2024Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
purpose of reviewCopy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases. Thus, CNVs have a significant impact on human health and disease. RECENT
findingsThe use of increasingly higher resolution, genomewide analysis has greatly enhanced the detection of genetic variation, including CNVs. Furthermore, the availability of comprehensive genetic variation data from large cohorts of healthy controls has the potential to greatly improve the identification of disease associated genetic variants in patient samples. SUMMARY: This review discusses the current knowledge about CNV disorders, including the mechanisms underlying their formation and phenotypic outcomes, and the advantages and limitations of current methods of detection and disease association.
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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.