Publications

Contents



Publications

Title Journal Name Publication Date PMID
Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci Nature Genetics 2020 32066938
Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma Genetics 2020 32327564
Whole Genome Sequencing Identifies Novel Functional Loci Associated With Lung Function in Puerto Rican Youth American Journal of Respiratory and Critical Care Medicine 2020 32459537
Evolutionary History of Modern Samoans Proceedings of the National Academy of Sciences 2020 32291332
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population Proceedings of the National Academy of Sciences of the United States of America 2020 31964835
Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans Ocular Immunology and Inflammation 2020 32141793
Coagulation factor VIII: Relationship to Cardiovascular Disease Risk and Whole Genome Sequence and Epigenome-Wide Analysis in African Americans Journal of Thrombosis and Haemostasis 2020 31985870
Comparison of Proteomic Assessment Methods in Multiple Cohort Studies Proteomics 2020 32386347
Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts American Journal of Human Genetics 2019 31883642
A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. Genetic Epidemiology 2019 31713269
An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. Frontiers in Genetics 2019 30863429
Genetic association testing using the GENESIS R/Bioconductor package Bioinformatics 2019 31329242
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 2019 30586733
Use of >100,000 Deep Coverage Whole Genome Sequences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Project Results in Improved Imputation Quality and Detection of Rare Variant Associations in Admixed African and Hispanic/Latino Populations PLOS Genetics 2019 31869403
Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico Pediatric Pulmonology 2019 31665830
Impact of rare and common genetic variants on type 2 diabetes diagnosis by hemoglobin A1c in multi-ancestry populations from the Trans-Omics for Precision Medicine (TOPMed) Program American Journal of Human Genetics 2019 31564435
A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies Genetic Epidemiology 2019 30653739
Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity American Journal of Human Genetics 2019 31543216
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma Chest 2019 31557467
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. American Journal of Human Genetics 2019 31668705
Leveraging linkage evidence to identify low frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data Human Genetics 2019 30671673
Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans Human Molecular Genetics 2018 30307499
Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies American Journal of Human Genetics 2018 30639324
Association between titin loss-of-function variants and early-onset atrial fibrillation. JAMA: The Journal of the American Medical Association 2018 30535219
An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. Journal of Lipid Research 2018 29463568
A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans Blood 2018 29764838
Genotypes, Phenotypes and Whole Genome Sequence: Approaches From the My Life Our Future Haemophilia Project Haemophilia 2018 29878652
An APOO pseudogene on chromosome 5q regulates LDL-C levels Circulation 2018 29593015
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries Nature Communications 2018 29973585
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals Nature Communications 2018 30140000
Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma American Journal of Respiratory and Critical Care Medicine 2018 29509491
Tonicity-Responsive Enhancer-Binding Protein Mediates Hyperglycemia-Induced Inflammation and Vascular and Renal Injury Journal of the American Society of Nephrology 2018 29158465
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease PLOS Genetics 2018 29590102
Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease American Journal of Respiratory and Critical Care Medicine 2018 29949718
Genomic characterization of the RH locus detects common, complex and novel structural variation in two multi-ethnic cohorts Nature Genetics in Medicine 2018 29955105
Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology Nature Genetics 2017 29074945
D-dimer in African Americans: Whole Genome Sequence Analysis and Relationship to CVD Risk in the Jackson Heart Study Arteriosclerosis, Thrombosis, and Vascular Biology 2017 28912365
Whole genome sequence analyses of brain imaging measures in the Framingham Study Neurology 2017 29282330
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Preprints

Title Preprint date Preprint DOI
Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs 2020 10.1101/673293
Population Stratification at the Phenotypic Variance level and Implication for the Analysis of Whole Genome Sequencing Data from Multiple Studies 2020 10.1101/2020.03.03.973420
A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program 2020 10.1101/2020.06.18.146423
Rare variant enriched identity-by-descent enables the detection of distant relatedness and older divergence between populations 2020 10.1101/2020.05.05.079541
Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries 2020 10.1101/2020.04.20.20016337
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians 2020 10.1101/2020.05.18.102996v1
Type 2 and Interferon inflammation strongly regulates SARS-CoV-2 related gene expression in the airway epithelium 2020 10.1101/2020.04.09.034454
Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries 2020 10.1101/2020.06.23.167759
Analysis of cardiac magnetic resonance imaging traits in 36,000 individuals reveals shared genetic basis with dilated cardiomyopathy 2020 10.1101/2020.02.12.946038v1
Population sequencing data reveal a compendium of mutational processes in human germline 2020 10.1101/2020.01.10.893024v1
Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes 2020 10.1101/2020.05.02.074096
Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes 2019 10.1101/782748v1
Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen 2019 10.1101/721704v1
Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity 2019 10.1101/621565v1
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program 2019 10.1101/563866v1
An exact, unifying framework for region-based association testing in family-based designs, including higher criticism approaches, SKATs, multivariate and burden tests 2019 10.1101/815290v1
Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program 2019 10.1101/652966v1
Recovery of trait heritability from whole genome sequence data 2019 10.1101/588020v1
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease 2019 10.1101/597377v1
Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed 2019 10.1101/749010v1
Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations 2019 10.1101/548321v1
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