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Abundant contribution of short tandem repeats to gene expression variation in humans
76/76 checkable references clean · checked 2026-07-22
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
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The 76 checked references that resolve
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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
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Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
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Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations
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Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS
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Interpreting noncoding genetic variation in complex traits and human disease
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Transcriptome and genome sequencing uncovers functional variation in humans
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Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
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The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
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The overdue promise of short tandem repeat variation for heritability
resolves10.1146/annurev-genet-072610-155046
Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences
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Microsatellite instability regulates transcription factor binding and gene expression
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Fimbrial phase variation in Bordetella pertussis: a novel mechanism for transcriptional regulation.
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Molecular basis of Mycoplasma surface antigenic variation: a novel set of divergent genes undergo spontaneous mutation of periodic coding regions and 5′ regulatory sequences.
resolves10.1073/pnas.0400182101
A variable dinucleotide repeat in the
<i>CFTR</i>
gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing
resolves10.1038/sj.emboj.7600677
Intronic CA‐repeat and CA‐rich elements: a new class of regulators of mammalian alternative splicing
resolves10.1073/pnas.121176998
A polymorphic dinucleotide repeat in the rat nucleolin gene forms Z-DNA and inhibits promoter activity
resolves10.1016/0092-8674(89)90011-1
The molecular mechanism of phase variation of H. influenzae lipopolysaccharide
resolves10.1126/science.1170097
Unstable Tandem Repeats in Promoters Confer Transcriptional Evolvability
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A Genetic Defect Caused by a Triplet Repeat Expansion in
<i>Arabidopsis thaliana</i>
resolves10.1126/science.1111427
Microsatellite Instability Generates Diversity in Brain and Sociobehavioral Traits
resolves10.1101/gr.169243.113
Dissection of thousands of cell type-specific enhancers identifies dinucleotide repeat motifs as general enhancer features
resolves10.1371/journal.pone.0054710
Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements
resolves10.1101/gr.190868.115
Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
resolves10.1002/humu.22115
Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB
resolves10.1074/jbc.274.19.13176
Modulation of Epidermal Growth Factor Receptor Gene Transcription by a Polymorphic Dinucleotide Repeat in Intron 1
resolves10.1093/oxfordjournals.molbev.a004023
Abundant Raw Material for Cis-Regulatory Evolution in Humans
resolves10.1016/S0014-5793(99)00863-7
Shortened microsatellite d(CA)21 sequence down‐regulates promoter activity of matrix metalloproteinase 9 gene
resolves10.1096/fasebj.13.13.1825
Genotyping and functional analysis of a polymorphic (CCTTT)
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repeat of NOS2A in diabetic retinopathy
resolves10.1038/nsb875
HnRNP L stimulates splicing of the eNOS gene by binding to variable-length CA repeats
resolves10.1073/pnas.1221891110
Aberrant splicing of
<i>HTT</i>
generates the pathogenic exon 1 protein in Huntington disease
resolves10.1038/ng.3363
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite
resolves10.1038/ng0893-387
Trinucleotide repeat length instability and age of onset in Huntington's disease
resolves10.1038/ng1292-301
Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy
resolves10.1371/journal.pgen.1002639
Patterns of Cis Regulatory Variation in Diverse Human Populations
resolves10.1016/j.ajhg.2008.02.018
Linkage Disequilibrium between STRPs and SNPs across the Human Genome
resolves10.1101/020909
Linkage disequilibrium between single nucleotide polymorphisms and hypermutable loci
resolves10.1371/journal.pone.0102113
A Systematic Evaluation of Short Tandem Repeats in Lipid Candidate Genes: Riding on the SNP-Wave
resolves10.1101/004309
Regulatory variants explain much more heritability than coding variants across 11 common diseases
resolves10.1016/j.ajhg.2015.05.016
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci
resolves10.1101/017392
GERV: A Statistical Method for Generative Evaluation of Regulatory Variants for Transcription Factor Binding
resolves10.1038/ng.107
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
resolves10.1038/ng.106
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
resolves10.1016/j.ajhg.2007.11.001
Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia
resolves10.1016/S0065-2660(01)42016-5
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resolves10.1038/nature13907
Resolving the complexity of the human genome using single-molecule sequencing
resolves10.1101/022418
Haplotypes of common SNPs can explain missing heritability of complex diseases
resolves10.1086/519795
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
resolves10.1002/humu.22359
Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing
resolves10.1038/nprot.2012.016
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
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A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data
The 1 reference without a DOI — listed, not checked
no DOI — not checkedGTEx Consortium. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648–660 (2015).
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