ArticleHuman mutation2010
Detection of clinically relevant exonic copy-number changes by array CGH.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers.
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Who cites it
138 citing papers in PubMed.
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.The Journal of clinical investigation · 2015Trial
- CRISPR-Cas12a for Birt-Hogg-Dubé syndrome: a promising diagnostic tool for deep intronic variant detection.Annals of medicine and surgery (2012) · 2026Article
- Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations.Annals of laboratory medicine · 2026Article
- Chromosomal abnormalities in primary and secondary recurrent miscarriages: significance for PGT-A.Journal of assisted reproduction and genetics · 2026Article
- FGFR Aberrations in Solid Tumors: Mechanistic Insights and Clinical Translation of Targeted Therapies.Cancers · 2025Review
- Computationally resolved neuroprogenitor cell biomarkers associate with human disorders.Stem cell reports · 2025Article
- Article
- Homozygous Intragenic Deletion inMolecular syndromology · 2025Article
- HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Nucleic acids research · 2024Article
- Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.BMC medical genomics · 2023Review
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.American journal of human genetics · 2023Article
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Genes · 2022Article
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.American journal of human genetics · 2022Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
- Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.Italian journal of pediatrics · 2022Article
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.Human genomics · 2021Article
- Article
78 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors.
Funding
Abstract
Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copy-number variation (CNV). However, intragenic deletions or duplications--those including genomic intervals of a size smaller than a gene--have remained beyond the detection limit of most clinical aCGH analyses. Increasing array probe number improves genomic resolution, although higher cost may limit implementation, and enhanced detection of benign CNV can confound clinical interpretation. We designed an array with exonic coverage of selected disease and candidate genes and used it clinically to identify losses or gains throughout the genome involving at least one exon and as small as several hundred base pairs in size. In some patients, the detected copy-number change occurs within a gene known to be causative of the observed clinical phenotype, demonstrating the ability of this array to detect clinically relevant CNVs with subkilobase resolution. In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes.
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