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Author: Bruce M Psaty

Rankings

  • All-time downloads: 75,692 (rank: 2,005 )
  • Categories:
    • epidemiology: 1,809 (rank: 6,741 (tie) )
    • genetic and genomic medicine: 6,184 (rank: 141 )
    • genetics: 40,498 (rank: 116 )
    • genomics: 25,013 (rank: 478 )
    • hematology: 657 (rank: 413 (tie) )
    • infectious diseases: 505 (rank: 33,932 (tie) )
    • sexual and reproductive health: 1,026 (rank: 164 (tie) )

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Preprints

Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes

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Recovery of trait heritability from whole genome sequence data

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Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

genetics more details view paper
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Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

genetics more details view paper
  • Downloaded 2,686 times
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    • Site-wide: 5,521
    • In genetics: 238
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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

genetics more details view paper
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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

genetics more details view paper
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Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

genetics more details view paper
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Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

genetics more details view paper
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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

genetics more details view paper
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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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  • Downloaded 1,380 times
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    • Site-wide: 14,777
    • In genetic and genomic medicine: 60
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Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

genetics more details view paper
  • Downloaded 1,224 times
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    • Site-wide: 17,680
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Downloaded 1,064 times
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    • Site-wide: 21,728
    • In genetics: 1,001
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Genetic insights into the biological mechanisms governing human ovarian ageing

sexual and reproductive health more details view paper
  • Downloaded 1,026 times
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    • In sexual and reproductive health: 15
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Genome-wide Meta-analysis of 158,000 Individuals of European Ancestry Identifies Three Loci Associated with Chronic Back Pain

genomics more details view paper
  • Downloaded 987 times
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 983 times
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    • In genetics: 1,131
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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  • Downloaded 905 times
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    • Site-wide: 27,424
    • In genetic and genomic medicine: 104
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    • Site-wide: 28,316
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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 858 times
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    • Site-wide: 29,597
    • In genetics: 1,378
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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

genomics more details view paper
  • Downloaded 769 times
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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

genetics more details view paper
  • Downloaded 748 times
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Collaborative Cohort of Cohorts for COVID-19 Research (C4R) Study: Study Design

epidemiology more details view paper
  • Downloaded 727 times
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

hematology more details view paper
  • Downloaded 657 times
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    • In hematology: 30
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

genetics more details view paper
  • Downloaded 636 times
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    • Site-wide: 44,422
    • In genetics: 2,013
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    • Site-wide: 92,720
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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

genetics more details view paper
  • Downloaded 621 times
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    • In genetics: 2,078
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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

genetics more details view paper
  • Downloaded 597 times
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    • In genetics: 2,160
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A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

genetics more details view paper
  • Downloaded 589 times
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    • In genetics: 2,201
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Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

genetics more details view paper
  • Downloaded 559 times
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    • Site-wide: 52,180
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Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

genomics more details view paper
  • Downloaded 514 times
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    • Site-wide: 57,625
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Renin-angiotensin-aldosterone system inhibitors and COVID-19 infection or hospitalization: a cohort study

infectious diseases more details view paper
  • Downloaded 505 times
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    • Site-wide: 58,900
    • In infectious diseases: 3,210
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Meta-analysis of exome array data identifies six novel genetic loci for lung function

genetics more details view paper
  • Downloaded 483 times
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    • Site-wide: 61,827
    • In genetics: 2,766
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

genetics more details view paper
  • Downloaded 482 times
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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

genetics more details view paper
  • Downloaded 481 times
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    • Site-wide: 62,111
    • In genetics: 2,781
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Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

genetic and genomic medicine more details view paper
  • Downloaded 452 times
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    • Site-wide: 66,455
    • In genetic and genomic medicine: 259
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Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

epidemiology more details view paper
  • Downloaded 444 times
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Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

genetic and genomic medicine more details view paper
  • Downloaded 420 times
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Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

genetics more details view paper
  • Downloaded 411 times
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Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

epidemiology more details view paper
  • Downloaded 324 times
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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

epidemiology more details view paper
  • Downloaded 314 times
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    • Site-wide: 92,030
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Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

genetic and genomic medicine more details view paper
  • Downloaded 301 times
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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

genetics more details view paper
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

genomics more details view paper
  • Downloaded 257 times
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    • Site-wide: 105,264
    • In genomics: 6,207
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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

genetic and genomic medicine more details view paper
  • Downloaded 255 times
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Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies

genetics more details view paper
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BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

genetic and genomic medicine more details view paper
  • Downloaded 206 times
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population

genetic and genomic medicine more details view paper
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