ArticleJournal of clinical & experimental cardiology2012
New Genetic Insights into Congenital Heart Disease.
Article in Journal of clinical & experimental cardiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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
30 citing papers in PubMed.
- Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.Journal of genetic counseling · 2025Article
- A Novel Missense Heterozygous Mutation inJournal of pediatric genetics · 2024Article
- Bioinformatic Multi-Strategy Profiling of Congenital Heart Defects for Molecular Mechanism Recognition.International journal of molecular sciences · 2024Article
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- Article
- Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.PloS one · 2024Article
- Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish.Cellular and molecular life sciences : CMLS · 2022Article
- Translational potential of hiPSCs in predictive modeling of heart development and disease.Birth defects research · 2022Review
- Integrated genomic analysis identifies novel low-frequencyFrontiers in cell and developmental biology · 2022Article
- Histone deacetylases in modulating cardiac disease and their clinical translational and therapeutic implications.Experimental biology and medicine (Maywood, N.J.) · 2021Review
- NovelFrontiers in medicine · 2021Article
- Article
- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Molecular genetics & genomic medicine · 2019Article
- Genetic architecture of laterality defects revealed by whole exome sequencing.European journal of human genetics : EJHG · 2019Article
- Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.Journal of clinical laboratory analysis · 2019Article
- Congenital anomalies of the pulmonary arteries: an imaging overview.The British journal of radiology · 2019Review
- The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development.Journal of cardiovascular development and disease · 2018Review
- Left-sided congenital heart lesions in mosaic Turner syndrome.Molecular genetics and genomics : MGG · 2018Article
- Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.Pediatric cardiology · 2018Article
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Genome medicine · 2017Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations.
Identifiers
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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.