ReviewCurrent opinion in genetics & development2022
Molecular genetic mechanisms of congenital heart disease.
Review in Current opinion in genetics & development, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01192048 (Genetic Testing of Individuals and Families With Congenital Heart Disease), which is not on this map. Cited by 21 papers.
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.
Genetic Testing of Individuals and Families With Congenital Heart Disease
Who cites it
21 citing papers in PubMed.
- Bisphenol A impairs contractile function and vascular development in human cardiac organoids: Insights from toxicity assessment and evidence-based risk evaluation.Journal of biomedical research · 2026Article
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Analysis of influencing factors of congenital heart disease in children in Luzhou, China: a case-control study.Frontiers in medicine · 2026Article
- A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.Genes · 2025Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Global, regional, and national burden of congenital heart disease, 1990-2021: a systematic analysis for the global burden of disease study 2021.European journal of pediatrics · 2025Article
- Genetic and Environmental Contributors To Congenital Heart Disease.Current treatment options in cardiovascular medicine · 2025Review
- Review
- Leveraging Therapeutic Proteins and Peptides fromInternational journal of molecular sciences · 2024Article
- FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.Cardiovascular research · 2024Article
- Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.Journal of clinical medicine · 2024Review
- Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.Molecular biology reports · 2024Article
- Generation and characterization of a human induced pluripotent stem cell line heterozygous for a NOTCH1 mutation (NCHi014-A).Stem cell research · 2024Article
- SomaticExperimental and therapeutic medicine · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- Discovery ofAmerican journal of translational research · 2024Article
- A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines.Journal of cardiovascular development and disease · 2023Review
- Massively Parallel Reporter Assays for High-Throughput In Vivo Analysis of Cis-Regulatory Elements.Journal of cardiovascular development and disease · 2023Review
- Increased gestational palmitic acid predisposes offspring to congenital heart disease.Cell reports. Medicine · 2023Article
- Discovery ofBiology · 2023Article
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.
Funding
Abstract
Congenital heart disease (CHD) affects ~1% of all live births, but a definitive etiology is identified in only ~50%. The causes include chromosomal aneuploidies and copy-number variations, pathogenic variation in single genes, and exposure to environmental factors. High-throughput sequencing of large CHD patient cohorts and continued expansion of the complex molecular regulation of cardiac morphogenesis has uncovered numerous disease-causing genes, but the previously held monogenic model for CHD etiology does not sufficiently explain the heterogeneity and incomplete penetrance of CHD phenotypes. Here, we provide a summary of well-known genetic contributors to CHD and discuss emerging concepts supporting complex genetic mechanisms that may provide explanations for cases that currently lack a molecular diagnosis.
Indexed as
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What Socratic 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 Socratic graph.