ReviewHuman genetics2008
Identifying modifier genes of monogenic disease: strategies and difficulties.
Review in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 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
75 citing papers in PubMed.
- Epigenetics, Modifiers, and Molecular Noise: Rethinking Pathophysiology in Dilated and Hypertrophic Cardiomyopathies.International journal of molecular sciences · 2026Review
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Gene and Stem Cell-Based Therapies for Retinal Degenerative Diseases: Update, Challenges, and Future Directions.Stem cell reviews and reports · 2025Review
- Benchmark of computational methods to detect digenism in sequencing data.European journal of human genetics : EJHG · 2025Review
- Genetic suppression interactions are highly conserved across genetically diverse yeast isolates.G3 (Bethesda, Md.) · 2025Article
- Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes.Diabetes · 2025Article
- The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.Movement disorders clinical practice · 2025Article
- A Truncating Variant in theGenetics research · 2025Article
- Article
- How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Sterol O-Acyltransferase 1 (International journal of molecular sciences · 2024Article
- Stochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes.Nature communications · 2023Article
- Global analysis of suppressor mutations that rescue human genetic defects.Genome medicine · 2023Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- Review
- Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions.Investigative ophthalmology & visual science · 2023Review
- [Factors influencing the clinical phenotype of hepatolenticular degeneration].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Review
- Genetic modifiers of synucleinopathies-lessons from experimental models.Oxford open neuroscience · 2023Review
- Assessing the digenic model in rare disorders using population sequencing data.European journal of human genetics : EJHG · 2022Article
- Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype.Global medical genetics · 2022Article
15 more citing papers are in PubMed but not listed here.
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
No grant is acknowledged in the PubMed record.
Abstract
Substantial clinical variability is observed in many Mendelian diseases, so that patients with the same mutation may develop a very severe form of disease, a mild form or show no symptoms at all. Among the factors that may explain these differences in disease expression are modifier genes. In this paper, we review the different strategies that can be used to identify modifier genes and explain their advantages and limitations. We focus mainly on the statistical aspects but illustrate our points with a variety of examples from the literature.
Indexed as
Identifiers
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Registered trials
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