ReviewJournal of the American College of Cardiology2016
Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.
Review in Journal of the American College of Cardiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed.
- Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine.Nature reviews. Cardiology · 2025Review
- Gene editing therapy as a therapeutic approach for cardiovascular diseases in animal models: A scoping review.PloS one · 2025Article
- Application of Spatial Omics in the Cardiovascular System.Research (Washington, D.C.) · 2025Review
- Ensuring Equity, Diversity, and Inclusiveness in Genetic Analysis Will Empower the Future of Precision Medicine.JACC. Advances · 2024Article
- Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure.Journal of cellular and molecular medicine · 2023Article
- Spatial transcriptomics unveils ZBTB11 as a regulator of cardiomyocyte degeneration in arrhythmogenic cardiomyopathy.Cardiovascular research · 2023Article
- Rationale and design of the PROspective ATHletic Heart (Pro@Heart) study: long-term assessment of the determinants of cardiac remodelling and its clinical consequences in endurance athletes.BMJ open sport & exercise medicine · 2022Article
- Translating genomic insights into cardiovascular medicine: Opportunities and challenges of CRISPR-Cas9.Trends in cardiovascular medicine · 2021Review
- Genetics, its role in preventing the pandemic of coronary artery disease.Clinical cardiology · 2021Review
- Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.Open medicine (Warsaw, Poland) · 2020Article
- New insights provided by myofibril mechanics in inherited cardiomyopathies.Conditioning medicine · 2019Article
- Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.Journal of the American College of Cardiology · 2019Article
- Epigenetics in dilated cardiomyopathy.Current opinion in cardiology · 2019Review
- Unraveling obscurins in heart disease.Pflugers Archiv : European journal of physiology · 2019Review
- The emerging role of sorting nexins in cardiovascular diseases.Clinical science (London, England : 1979) · 2019Review
- Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.F1000Research · 2019Article
- Genetic Testing in Cardiovascular Medicine.Texas Heart Institute journal · 2018Review
- [Genetic testing to prevent sudden cardiac death].Der Internist · 2018Review
- Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.Heart failure clinics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
This is the first of 2 review papers on genetics and genomics appearing as part of the series on "omics." Genomics pertains to all components of an organism's genes, whereas genetics involves analysis of a specific gene or genes in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper.
Indexed as
Identifiers
What OpenQuestion holds
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.