Author: Bruce M Psaty

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Preprints

Genetic insights into the biological mechanisms governing human ovarian ageing

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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)

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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

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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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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

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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

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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

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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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

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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

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Genome-wide Meta-analysis of 158,000 Individuals of European Ancestry Identifies Three Loci Associated with Chronic Back Pain

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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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Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

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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

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Meta-analysis of exome array data identifies six novel genetic loci for lung function

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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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Renin-angiotensin-aldosterone system inhibitors and COVID-19 infection or hospitalization: a cohort study

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Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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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.

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Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

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A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

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Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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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

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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

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Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies

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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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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

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