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Author: Stephen B. Montgomery

Rankings

  • All-time downloads: 35,774 (rank: 1,089 out of 379,128)
  • Categories:
    • genetics: 11,370 (rank: 1,075 out of 35,060)
    • genomics: 22,550 (rank: 350 out of 40,503)
    • systems biology: 1,854 (rank: 1,516 (tie) out of 11,213)

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Preprints

The GTEx Consortium atlas of genetic regulatory effects across human tissues

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Local genetic effects on gene expression across 44 human tissues

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Single-cell epigenomic identification of inherited risk loci in Alzheimer's and Parkinson's disease

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The impact of rare variation on gene expression across tissues

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The impact of structural variation on human gene expression

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Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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Molecular Choreography of Acute Exercise

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Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

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Genetic analyses in UK Biobank identifies 78 novel loci associated with urinary biomarkers providing new insights into the biology of kidney function and chronic disease

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Impact of the X chromosome and sex on regulatory variation

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Systematic assessment of regulatory effects of human disease variants in pluripotent cells

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Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

genetics more details view paper
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Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

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Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx

genetics more details view paper
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Genomic properties of structural variants and short tandem repeats that impact gene expression and complex traits in humans

genomics more details view paper
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Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats

genomics more details view paper
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Population-specific imputation of gene expression improves prediction of pharmacogenomic traits for African Americans

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Ocular disease mechanisms elucidated by genetics of human fetal retinal pigment epithelium gene expression

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Genetic regulatory mechanisms of smooth muscle cells map to coronary artery disease risk loci

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    • In genomics: 3,273 out of 5,641
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Recurrently Mutated Genes Differ between Leptomeningeal and Solid Lung Cancer Brain Metastases

genomics more details view paper
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    • In genomics: 4,194 out of 5,641
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    • Site-wide: 56,596 out of 88,415

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