Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome Article Swipe
Hypoplastic left heart syndrome (HLHS) is among the most severe cardiovascular malformations and understanding its causes is crucial to making progress in prevention and treatment. Genetic analysis is a broadly useful tool for dissecting complex causal mechanisms and it is playing a significant role in HLHS research. However, unlike classical Mendelian disorders where a relatively small number of genes are largely determinative of the occurrence and severity of the disease, the picture in HLHS is complex. De novo single-gene and copy number variant (CNV) disorders make an important contribution, but there is emerging evidence for causal contributions from lower penetrance and common variation. Integrating this emerging knowledge into clinical diagnostics and translating the findings into effective prevention and treatment remain challenges for the future.
Related Topics
Concepts
Hypoplastic left heart syndrome
Penetrance
Genetic architecture
Mendelian inheritance
Heart disease
Maladaptation
Disease
Concordance
Medicine
Genetics
Biology
Gene
Phenotype
Internal medicine
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/jcdd9100315
- https://www.mdpi.com/2308-3425/9/10/315/pdf?version=1663723575
- OA Status
- gold
- Cited By
- 5
- References
- 77
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4296480599
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4296480599Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/jcdd9100315Digital Object Identifier
- Title
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Considering the Genetic Architecture of Hypoplastic Left Heart SyndromeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
-
2022-09-20Full publication date if available
- Authors
-
John W. BelmontList of authors in order
- Landing page
-
https://doi.org/10.3390/jcdd9100315Publisher landing page
- PDF URL
-
https://www.mdpi.com/2308-3425/9/10/315/pdf?version=1663723575Direct link to full text PDF
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://www.mdpi.com/2308-3425/9/10/315/pdf?version=1663723575Direct OA link when available
- Concepts
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Hypoplastic left heart syndrome, Penetrance, Genetic architecture, Mendelian inheritance, Heart disease, Maladaptation, Disease, Concordance, Medicine, Genetics, Biology, Gene, Phenotype, Internal medicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
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5Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 2, 2023: 1, 2022: 1Per-year citation counts (last 5 years)
- References (count)
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77Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| publication_year | 2022 |
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