ReviewCold Spring Harbor perspectives in medicine2014
Complex genetics and the etiology of human congenital heart disease.
Review in Cold Spring Harbor perspectives in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
86 citing papers in PubMed, 2 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Serum TNF-α levels in children with congenital heart disease undergoing cardiopulmonary bypass: A cohort study in China and a meta-analysis of the published literature.Journal of clinical laboratory analysis · 2017Pooled it
- Developmental Systems Cardiology: A Longitudinal Adaptive Framework for Congenital Heart Disease.Pediatric cardiology · 2026Article
- Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling.Advanced healthcare materials · 2026Review
- Oral Health in Children With Congenital Heart Diseases: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2026Review
- A machine learning classifier to identify and prioritise genes associated with murine cardiac development.PLoS genetics · 2026Article
- Case Report: Dual molecular diagnosis in complex congenital heart disease in an Ecuadorian patient with supravalvar aortic stenosis and pulmonary valve stenosis carrying pathogenic variants inFrontiers in pediatrics · 2026Article
- Article
- Transformative Potential of Induced Pluripotent Stem Cells in Congenital Heart Disease Research and Treatment.Children (Basel, Switzerland) · 2025Review
- Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.American journal of human genetics · 2024Article
- Cardiomyocyte proliferation and regeneration in congenital heart disease.Pediatric discovery · 2024Article
- Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2.Current cardiology reports · 2024Review
- Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.Current cardiology reports · 2024Review
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.Pediatric cardiology · 2024Article
- Article
- Shear and hydrostatic stress regulate fetal heart valve remodeling through YAP-mediated mechanotransduction.eLife · 2023Article
- The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease.Frontiers in cardiovascular medicine · 2023Article
- Translational potential of hiPSCs in predictive modeling of heart development and disease.Birth defects research · 2022Review
- Single-cell transcriptomic profiling unveils dysregulation of cardiac progenitor cells and cardiomyocytes in a mouse model of maternal hyperglycemia.Communications biology · 2022Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD, but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Mainly because of recent advances in genomic technology such as next-generation DNA sequencing, scientists have begun to identify the genetic variants underlying CHD. In this article, the roles of modifier genes, de novo mutations, copy number variants, common variants, and noncoding mutations in the pathogenesis of CHD are reviewed.
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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.