ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2020
Left-right patterning in congenital heart disease beyond heterotaxy.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 30 citations in OpenAlex.
- The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.Prenatal diagnosis · 2025Article
- Differential Regulation of Immune-Related Genes in the Developing Heart.Pediatric cardiology · 2025Article
- Decoding congenital heart disease: a multi-omic framework for cardiac lineage and regulatory dysfunction.Frontiers in cell and developmental biology · 2025Review
- The Functional Significance of Cardiac Looping: Comparative Embryology, Anatomy, and Physiology of the Looped Design of Vertebrate Hearts.Journal of cardiovascular development and disease · 2024Review
- Dynamics of multicellular swirling on micropatterned substrates.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Cdon is essential for organ left-right patterning by regulating dorsal forerunner cells clustering and Kupffer's vesicle morphogenesis.Frontiers in cell and developmental biology · 2024Article
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2023Review
- Genome Editing and Myocardial Development.Advances in experimental medicine and biology · 2023Review
- LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.PLoS genetics · 2022Article
- A multi-disciplinary, comprehensive approach to management of children with heterotaxy.Orphanet journal of rare diseases · 2022Review
- Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.European journal of medical genetics · 2022Article
- A change of heart: new roles for cilia in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- Understanding laterality disorders and the left-right organizer: Insights from zebrafish.Frontiers in cell and developmental biology · 2022Review
- Getting to the Heart of Left-Right Asymmetry: Contributions from the Zebrafish Model.Journal of cardiovascular development and disease · 2021Review
- The twists and turns of left-right asymmetric gut morphogenesis.Development (Cambridge, England) · 2020Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth defect involving randomized left-right patterning of visceral organ situs. Large scale mouse forward genetics have led to the finding of a central role for cilia in CHD pathogenesis, with some cilia and non-cilia mutations causing CHD with heterotaxy. Interestingly, many of the mutations causing CHD with heterotaxy can give rise to three laterality outcomes comprising normal situs solitus, mirror symmetric situs inversus totalis, or randomized situs with heterotaxy. Given CHD is largely observed only with heterotaxy, this suggests a new paradigm is needed for investigating the genetics of CHD associated with heterotaxy. Furthermore, analysis of data from multiple large birth cohorts have independently confirmed a broader involvement of laterality disturbance in CHD. This was demonstrated by the common cooccurrence of rare laterality defects with CHD lesions of a wide spectrum. These findings suggest left-right patterning is tightly intertwined with the developmental processes that regulate cardiac morphogenesis and its disturbance may contribute to all types of CHD even in the absence of laterality defects.
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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.