ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 238 papers, 4 of them syntheses that pooled it.
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Who cites it
238 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- An updated catalog ofFrontiers in molecular neuroscience · 2023Pooled it
- Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.Circulation. Genomic and precision medicine · 2019Pooled it
- Comprehensive evaluation of the child with intellectual disability or global developmental delays.Pediatrics · 2014Pooled it
- Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biological psychiatry · 2014Pooled it
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism.Current issues in molecular biology · 2026Article
- Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.International journal of molecular sciences · 2026Article
- Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.Nature communications · 2026Article
- Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- μ Opioid Modulation of Sensorimotor Functional Connectivity in Autism: Insights From a Pharmacological Neuroimaging Investigation Using Tianeptine.Biological psychiatry global open science · 2026Article
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.International journal of molecular sciences · 2026Article
- GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- ComplexFrontiers in pediatrics · 2026Article
- Functional Characterization of a NovelGenes · 2025Article
- Inhibitory Neurons Marked by the Connectivity Molecule Kirrel3 Regulate Memory Precision.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Inhibitory neurons marked by the connectivity molecule Kirrel3 regulate memory precision.bioRxiv : the preprint server for biology · 2025Article
- Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype-Phenotype.Journal of clinical laboratory analysis · 2025Article
- Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders.Biological psychiatry global open science · 2025Article
178 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors.
Funding
Abstract
purposeCopy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare copy number variants in patients remains challenging. The adoption of whole-genome chromosomal microarray analysis as a first-tier diagnostic test for individuals with unexplained developmental disabilities provides a unique opportunity to obtain large copy number variant datasets generated through routine patient care.
methodsA consortium of diagnostic laboratories was established (the International Standards for Cytogenomic Arrays consortium) to share copy number variant and phenotypic data in a central, public database. We present the largest copy number variant case-control study to date comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing our initial analysis on recurrent deletions and duplications involving 14 copy number variant regions.
resultsCompared with controls, 14 deletions and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.
conclusionGiven the rapid expansion of clinical chromosomal microarray analysis testing, very large datasets will be available to determine the functional significance of increasingly rare copy number variants. This data will provide an evidence-based guide to clinicians across many disciplines involved in the diagnosis, management, and care of these patients and their families.
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