Author: Jennifer A. Smith

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Preprints

Genetic insights into the biological mechanisms governing human ovarian ageing

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Test performance evaluation of SARS-CoV-2 serological assays

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

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  • Site-wide: 991
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Heterogeneity in polygenic scores for common human traits

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

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Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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Population sequencing data reveal a compendium of mutational processes in human germline

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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 association studies identify 137 loci for DNA methylation biomarkers of ageing

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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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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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The Potential Impact of Interruptions to HIV Services: A Modelling Case Study for South Africa

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Leveraging Gene Co-expression Patterns to Infer Trait-Relevant Tissues in Genome-wide Association Studies

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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

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Bayesian Shrinkage Estimation of High Dimensional Causal Mediation Effects in Omics Studies

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Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

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A non-APOE polygenic score for Alzheimer's disease and APOE-ε4 have independent associations with dementia in the Health and Retirement Study

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Single cell transcriptome analysis defines heterogeneity of the adult murine pancreatic ductal tree

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Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

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Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

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

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Stabilization of p53 by microRNAs in HPV-positive cervical cancer cells

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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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  • In genetic and genomic medicine: 516
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