ArticleNature communications2019
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis 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.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Pooled it
- CDK1 and CEP97 cooperatively control centriole length to orchestrate ciliogenesis and developmental patterning.Genes & development · 2026Article
- A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.Bioinformatics (Oxford, England) · 2026Article
- Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.Human mutation · 2026Article
- Review
- Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve caused by loss of primary cilia.Cardiovascular research · 2025Article
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.PLoS genetics · 2025Article
- Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.Nature communications · 2025Observational
- Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.Orphanet journal of rare diseases · 2025Article
- Explainable artificial intelligence for stroke risk stratification in atrial fibrillation.European heart journal. Digital health · 2025Review
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners.Epigenetics & chromatin · 2025Article
- AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.BMC pregnancy and childbirth · 2025Observational
- Pharmacogenomics and its Role in Cardiovascular Diseases: A Narrative Literature Review.Current cardiology reviews · 2025Review
- Article
- Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.Human genetics · 2024Article
- ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.Genome medicine · 2024Article
- The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.Genome medicine · 2024Article
- Human Genetics of Defects of Situs.Advances in experimental medicine and biology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 8 institutions in 1 country.
Funding
Abstract
The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to de novo forms of CHD are distinct from those for recessive forms, we analyze 2391 whole-exome trios from the Pediatric Cardiac Genomics Consortium. We deploy a permutation-based gene-burden analysis to identify damaging recessive and compound heterozygous genotypes and disease genes, controlling for confounding effects, such as background mutation rate and ancestry. Cilia-related genes are significantly enriched for damaging rare recessive genotypes, but comparatively depleted for de novo variants. The opposite trend is observed for chromatin-modifying genes. Other cardiac developmental gene classes have less stratification by mode of inheritance than cilia and chromatin-modifying gene classes. Our analyses reveal dominant and recessive CHD are associated with distinct gene functions, with cilia-related genes providing a reservoir of rare segregating variation leading to CHD.
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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.