The DOI matches its Crossref record; 539 of the 539 references it cites were found in a registry or an index.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Open accessAbstract
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell–based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care–related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.
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“A 1:1 correspondence between genotype and specific CHD phenotype does not exist.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [43]
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“Each major anatomical type of CHD can be caused by multiple different genetic variants (etiologic heterogeneity) and each genetic variant identified as a cause of CHDs is associated with multiple different specific defects (variable expressivity).43”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [43]
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Heart Disease and Stroke Statistics—2023 Update: A Report From the American Heart Association
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Insufficient Evidence for “Autism-Specific” Genes
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Metadata
- Authors
- Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., Ware, S. M., Gelb, B. D., Russell, M. W., & On behalf of the American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine
- ORCID
- Venue
- Circulation
- Published
- 2018-11-20
- Volume
- 138
- Issue
- 21
- Pages
- e653-e711
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- PMC
- PMC6555769
- OpenAlex
- W2901940932
- Cited by
- 654
- References
- 539
- Citations by year
- 2026: 78 · 2025: 73 · 2024: 118 · 2023: 100 · 2022: 108 · 2021: 99 · 2020: 54 · 2019: 22
- FWCI
- 4.31
- Type
- journal article
- Language
- en
- Update notices
- correction (2018-11-19)
- Open access
- bronze
- doi.org
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Minnesota
- University of Washington
- National Heart, Lung, and Blood Institute (R35HL135742, UM1HL098166, U10HL109737, R01HL128694, R01HL121797, R01HL111459, R01HL109758, U01HL131003, R00HL130523, U01HL098163, R01HL116461, UM1HL098123, P01HL134599)
- National Human Genome Research Institute (U01HG006485, U01HG006500)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077671)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- congenital heart disease, genetic basis, pathogenesis, copy number variation, syndromic congenital heart disease, RASopathies, heterotaxy syndrome, ciliopathies, prenatal diagnosis, molecular genetic testing, animal models, induced pluripotent stem cells, genetic counseling
- MeSH terms
- American Heart Association, Aneuploidy, Down Syndrome, Heart Defects, Congenital, Humans, United States, Genetic Variation, Polymorphism, Single Nucleotide, DNA Copy Number Variations
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