ReviewCirculation research2013
Genetics of congenital heart disease: the glass half empty.
Review in Circulation research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 307 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
307 citing papers in PubMed, 5 syntheses or guidelines pooled it, 582 citations in OpenAlex.
- Spatial Distribution and Birth Prevalence of Congenital Heart Disease in Iran: A Systematic Review and Hierarchical Bayesian Meta-analysis.International journal of health policy and management · 2024Pooled it
- The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2021Pooled it
- Effects of Exercise Training in Postoperative Patients With Congenital Heart Disease: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.Journal of the American Heart Association · 2020Pooled it
- Maternal Body Mass Index and Risk of Congenital Heart Defects in Infants: A Dose-Response Meta-Analysis.BioMed research international · 2019Pooled it
- Meta-Prediction of MTHFR Gene Polymorphism and Air Pollution on the Risks of Congenital Heart Defects Worldwide: A Transgenerational Analysis.International journal of environmental research and public health · 2018Pooled it
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.Circulation. Genomic and precision medicine · 2021Trial
- Charitable funding of congenital heart surgery in China: A cost-effectiveness analysis from the National Center for Cardiovascular Diseases.JTCVS open · 2026Article
- Epigenetic and chromatin remodeling mechanisms across cardiomyopathies: a comprehensive review.Epigenetics & chromatin · 2026Review
- Impact of breast milk composition on nutritional status of term neonates with congenital heart defects: A prospective study.World journal of clinical pediatrics · 2026Article
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- Review
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Jagged-1 mutation is associated with congenital heart defects: a case report.Journal of medical case reports · 2026Article
- Article
- Explainable machine learning model for identifying key risk factors in congenital heart disease prediction using questionnaire data: a retrospective case-control study.BMC medical informatics and decision making · 2026Article
- Disease burden and associated factors among caregivers of children with congenital heart disease at tertiary hospitals in Addis Ababa, Ethiopia.Scientific reports · 2026Article
- 22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports.Children (Basel, Switzerland) · 2026Article
- EchoVisuALL: From Echocardiography to Gene Discovery.bioRxiv : the preprint server for biology · 2026Article
- A machine learning classifier to identify and prioritise genes associated with murine cardiac development.PLoS genetics · 2026Article
- Environmentally dependent developmental induction as a potential driver of heart evolution.The Journal of experimental biology · 2026Review
247 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental animal models, by perturbing selected molecules that function in the developmental pathways involved in myocyte specification, differentiation, or cardiac morphogenesis. In contrast, the precise genetic, epigenetic, or environmental basis for these perturbations in humans remains poorly understood. Over the past few decades, researchers have tried to bridge this knowledge gap through conventional genome-wide analyses of rare Mendelian CHD families, and by sequencing candidate genes in CHD cohorts. Although yielding few, usually highly penetrant, disease gene mutations, these discoveries provided 3 notable insights. First, human CHD mutations impact a heterogeneous set of molecules that orchestrate cardiac development. Second, CHD mutations often alter gene/protein dosage. Third, identical pathogenic CHD mutations cause a variety of distinct malformations, implying that higher order interactions account for particular CHD phenotypes. The advent of contemporary genomic technologies including single nucleotide polymorphism arrays, next-generation sequencing, and copy number variant platforms are accelerating the discovery of genetic causes of CHD. Importantly, these approaches enable study of sporadic cases, the most common presentation of CHD. Emerging results from ongoing genomic efforts have validated earlier observations learned from the monogenic CHD families. In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD.
Indexed as
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What OpenQuestion holds
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.