ReviewNature reviews. Genetics2011
Understanding the contribution of synonymous mutations to human disease.
Review in Nature reviews. Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 521 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.
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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
521 citing papers in PubMed, 1,024 citations in OpenAlex.
- cPRIME enables endogenous mapping of genetic variant effects at RNA level.Nature communications · 2026Article
- Detection of Myoglobin Gene Polymorphism Associated With Pigeons' Growth Traits.Animal genetics · 2026Article
- Short QT Syndrome With Synonymous RYR2 Variant: A Case Suggesting Intermediate Arrhythmic Risk.JACC. Case reports · 2026Article
- A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing.Journal, genetic engineering & biotechnology · 2026Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Identification of Growth-Related Single-Nucleotide Polymorphisms in the cAMP-Dependent Protein Kinase Type I Regulatory Subunit-like Gene of the Oriental River Prawn,International journal of molecular sciences · 2026Article
- Folding the message: mRNA structure as a regulatory layer of human mitochondrial gene expression.Biochimica et biophysica acta. Molecular cell research · 2026Review
- Synonymous variants in IRX4 and their association with congenital heart disease: an in-silico functional assessment.Molecular biology reports · 2026Article
- Combining multiplexed functional data to improve variant classification.Genome medicine · 2026Article
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- Comprehensive resistance profiling of chronic myeloid leukaemia associated ABL1 variants against five tyrosine kinase inhibitors using prime editing.Nature biomedical engineering · 2026Article
- TLR 9 (rs352140) gene polymorphism in Helicobacter pylori infection in children.Scientific reports · 2026Article
- Screening of a Novel SynonymousBiomedicines · 2026Article
- Article
- Phenotypic and genetic resistance to Septoria blotch disease in European wheat varieties.The plant genome · 2026Article
- Enhancing Drug Response Prediction in Epilepsy with Emerging Multimodal Models: Focus on Clinical, Pharmacologic, and Genomic Factors.CNS drugs · 2026Review
- Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome.Human genomics · 2026Article
- Impact of genetic polymorphisms in the interleukin-18 and interleukin-21 genes on the risk and clinical outcomes of multiple sclerosis.BMC neurology · 2026Article
- Prime editor-based high-throughput screening reveals functional synonymous mutations in human cells.Nature biotechnology · 2026Article
- Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.Journal of clinical immunology · 2026Article
461 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Synonymous mutations - sometimes called 'silent' mutations - are now widely acknowledged to be able to cause changes in protein expression, conformation and function. The recent increase in knowledge about the association of genetic variants with disease, particularly through genome-wide association studies, has revealed a substantial contribution of synonymous SNPs to human disease risk and other complex traits. Here we review current understanding of the extent to which synonymous mutations influence disease, the various molecular mechanisms that underlie these effects and the implications for future research and biomedical applications.
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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.