ArticleFrontiers in genetics2019
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 28 citations in OpenAlex.
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases · 2025Article
- Article
- Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.Current cardiology reports · 2024Review
- Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.Molecular cytogenetics · 2024Article
- The role ofJournal of pharmaceutical analysis · 2023Review
- Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.Journal of human genetics · 2023Article
- 22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.Molecular syndromology · 2023Article
- Physiological roles of mammalian transmembrane adenylyl cyclase isoforms.Physiological reviews · 2022Review
- Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle.BMC medical genomics · 2021Article
- Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.Neurogenetics · 2021Article
- Clinical evaluation of patients with a neuropsychiatric risk copy number variant.Current opinion in genetics & development · 2021Review
- Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital heart defects (CHDs) are a common birth defect, affecting approximately 1% of newborn children in the United States. As previously reported, a significant number of CHDs are potentially attributed to altered copy number variants (CNVs). However, as many genomic variants are rare, a large-scale CNV triad study is necessary to characterize the genetic architecture of CHD. We used whole-exome sequencing (WES) data generated by the Pediatric Cardiac Genomics Consortium (PCGC), including a discovery dataset of 2,103 individuals from 760 nuclear family trios and an independent replication set of 4,808 individuals from 1,712 trios. The candidate targets uncovered were further validated through different platforms, including the Omni single-nucleotide polymorphism (SNP) array chip in 1,860 individuals and the whole-genome sequencing (WGS) data in 33 trios. The genes harboring CNVs of interest were then investigated for expression alternations based on cardiac tissue RNA-Seq data. We identified multiple CNVs in the WES data that associated with specific sub-phenotypes of CHD in approximately 2,400 families, including 98
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