ArticleNature genetics2009
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 233 papers, 3 of them syntheses that pooled it.
What it found
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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
233 citing papers in PubMed, 3 syntheses or guidelines pooled 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
- Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.PloS one · 2019Pooled it
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
- Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Circulation research · 2014Trial
- Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.PloS one · 2014Trial
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Review
- Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.Science advances · 2025Article
- Article
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Copy Number Variation in Asthma: An Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- Elevated microRNA-187 causes cardiac endothelial dysplasia to promote congenital heart disease through inhibition of NIPBL.The Journal of clinical investigation · 2024Article
- Review
- Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data.Nature communications · 2024Article
- Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.Current cardiology reports · 2024Review
- Cardiac Transcription Factors and Regulatory Networks.Advances in experimental medicine and biology · 2024Review
- Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
173 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors.
Funding
Abstract
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF.
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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.