ReviewCurrent opinion in pediatrics2013
Recent advances in understanding the genetics of congenital heart defects.
Review in Current opinion in pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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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
9 citing papers in PubMed, 17 citations in OpenAlex.
- Oral Health in Children With Congenital Heart Diseases: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2026Review
- Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort.Pediatric cardiology · 2019Article
- Fetuses with Isolated Congenital Heart Defects Show Normal Cerebral and Extracerebral Fluid Volume Growth: A 3D Sonographic Study in the Second and Third Trimester.Fetal diagnosis and therapy · 2019Article
- Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders.Journal of community genetics · 2018Article
- Recent Advances in Placenta-Heart Interactions.Frontiers in physiology · 2018Review
- An interspecies heart-to-heart: UsingCurrent pathobiology reports · 2017Article
- Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases.PloS one · 2015Article
- Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.JAMA pediatrics · 2014Review
- Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewTo review recent advances in our understanding of the genetic causes of congenital heart defect (CHD). RECENT
findingsCHD behaves like a complex genetic trait in most instances. Recent advances in genomics have provided tools for uncovering genetic variants underlying complex traits that are now being applied to study CHD. Massively parallel DNA sequencing has shown that de-novo mutations contribute to approximately 10% of severe CHD and implicated chromatin remodeling in pathogenesis. Genome scanning methods for copy number variants continue to identify lesions underlying CHD, some predisposing to it generally and others having lesion specificity. Gene-environment interactions are being explored, primarily related to the metabolism of folate and homocysteine. Finally, studies are addressing other aspects of complexity for CHD such as mutations in cis-regulatory elements and modifying genes. SUMMARY: The genetic architecture of CHD is being elaborated through the use of state-of-the-art genomic approaches. Through these scientific advances, new opportunities for preventing and ameliorating CHD and its comorbidities are anticipated.
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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.