ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Novel copy-number variants in a population-based investigation of classic heterotaxy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- 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
- Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.American journal of human genetics · 2025Article
- Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.The Journal of molecular diagnostics : JMD · 2022Article
- Article
- Xenopus as a platform for discovery of genes relevant to human disease.Current topics in developmental biology · 2021Review
- Monoallelic Mutations inCirculation. Genomic and precision medicine · 2020Article
- Genetic variants in humanin nuclear isoform gene regions show no association with coronary artery disease.BMC research notes · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Genome medicine · 2018Article
- Rare copy number variants identified in prune belly syndrome.European journal of medical genetics · 2018Article
- ZIC3 in Heterotaxy.Advances in experimental medicine and biology · 2018Review
- Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.American journal of medical genetics. Part A · 2017Article
- Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.Birth defects research · 2017Article
- Copy number variants in Ebstein anomaly.PloS one · 2017Article
- Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Article
- Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.Human genetics · 2016Article
- Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.Seminars in cell & developmental biology · 2016Review
- Rare copy number variants implicated in posterior urethral valves.American journal of medical genetics. Part A · 2016Article
- Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.PloS one · 2016Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
purposeHeterotaxy is a clinically and genetically heterogeneous disorder. We investigated whether screening cases restricted to a classic phenotype would result in the discovery of novel, potentially causal copy-number variants.
methodsWe identified 77 cases of classic heterotaxy from all live births in New York State during 1998-2005. DNA extracted from each infant's newborn dried blood spot was genotyped with a microarray containing 2.5 million single-nucleotide polymorphisms. Copy-number variants were identified with PennCNV and cnvPartition software. Candidates were selected for follow-up if they were absent in unaffected controls, contained 10 or more consecutive probes, and had minimal overlap with variants published in the Database of Genomic Variants.
resultsWe identified 20 rare copy-number variants including a deletion of BMP2, which has been linked to laterality disorders in mice but not previously reported in humans. We also identified a large, terminal deletion of 10q and a microdeletion at 1q23.1 involving the MNDA gene; both are rare variants suspected to be associated with heterotaxy.
conclusionOur findings implicate rare copy-number variants in classic heterotaxy and highlight several candidate gene regions for further investigation. We also demonstrate the efficacy of copy-number variant genotyping in blood spots using microarrays.
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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.