ArticlePloS one2017
Copy number variants in Ebstein anomaly.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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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
6 citing papers in PubMed, 12 citations in OpenAlex.
- Ebstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.BMC cardiovascular disorders · 2026Article
- Phenotypic Variability in a Family with Andersen-Tawil Syndrome.Arquivos brasileiros de cardiologia · 2025Article
- Human Genetics of Ebstein Anomaly.Advances in experimental medicine and biology · 2024Review
- Identification of vital modules and genes associated with heart failure based on weighted gene coexpression network analysis.ESC heart failure · 2022Article
- Little to Give, Much to Gain-What Can You Do With a Dried Blood Spot?Current environmental health reports · 2020Review
- Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.Nature communications · 2018Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundEbstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component.
objectiveWe performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases.
methodsWe genotyped 60 EA cases identified from all live births (2,891,076) from selected California counties (1991-2010) using the Illumina HumanOmni2.5-8 array. We identified 38 candidate CNVs in 28 (46%) cases and prioritized and validated 11 CNVs based on the genes included.
resultsFive CNVs (41%) overlapped or were close to genes involved in early myocardial development, including NODAL, PDLIM5, SIX1, ASF1A and FGF12. We also replicated a previous association of EA with CNVs at 1p34.1 and AKAP12. Finally, we identified four CNVs overlapping or in close proximity to the transcription factors HES3, TRIM71, CUX1 and EIF4EBP2.
conclusionsThis study supports the relationship of genetic factors to EA and demonstrates that defects in cardiomyocytes and myocardium differentiation may play a role. Abnormal differentiation of cardiomyocytes and how genetic factors contribute should be examined for their association with EA.
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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.