ReviewFrontiers in physiology2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Review in Frontiers in physiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types.Cerebral cortex (New York, N.Y. : 1991) · 2024Pooled it
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.European journal of human genetics : EJHG · 2026Article
- Review
- Modelling Tetralogy of Fallot: insights and limitations of animal models.Frontiers in cell and developmental biology · 2026Review
- Structural birth defects and leukemia risk in children with Down syndrome.Scientific reports · 2025Article
- Palliative RVOT Stenting Using a Drug-Eluting Coronary Stent in a Preterm Neonate With Severe PS, VSD, and Bilateral Branch PA Stenosis: A Case Report.Clinical case reports · 2025Article
- Application of Induced Pluripotent Stem Cells (iPSCs) in Hereditary and Viral Diseases of the Liver: Modeling and Treatment.International journal of molecular sciences · 2025Review
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.European journal of human genetics : EJHG · 2025Article
- Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot.Molecular genetics & genomic medicine · 2025Article
- Integrative metabolomics dictate distinctive signature profiles in patients with Tetralogy of Fallot.Pediatric research · 2025Article
- The analysis reveals novel hub genes and pathways associated with Tetralogy of Fallot.Frontiers in cardiovascular medicine · 2025Article
- Article
- Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis.Genetic testing and molecular biomarkers · 2024Article
- Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses.Pediatric research · 2024Article
- Genetic insights into Tetralogy of Fallot: Oh MYH(6).Pediatric research · 2024Article
- Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024Review
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5-10% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.
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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.