Publications

Contents



Publications

Title Journal Name Publication Datesort descending PMID
Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology Nature Genetics 2017 29074945
Tonicity-Responsive Enhancer-Binding Protein Mediates Hyperglycemia-Induced Inflammation and Vascular and Renal Injury Journal of the American Society of Nephrology 2017 29158465
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
Genotypes, Phenotypes and Whole Genome Sequence: Approaches From the My Life Our Future Haemophilia Project Haemophilia 2018 29878652
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
Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes Human Genetics 2018 29423652
A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans Blood 2018 29764838
An APOO pseudogene on chromosome 5q regulates LDL-C levels Circulation 2018 29593015
Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease American Journal of Respiratory and Critical Care Medicine 2018 29949718
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
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries Nature Communications 2018 29973585
Association between titin loss-of-function variants and early-onset atrial fibrillation. JAMA: The Journal of the American Medical Association 2018 30535219
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease PLOS Genetics 2018 29590102
Genomic characterization of the RH locus detects common, complex and novel structural variation in two multi-ethnic cohorts Nature Genetics in Medicine 2018 29955105
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults Journal of the American College of Cardiology 2019 31727422
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
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
Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts American Journal of Human Genetics 2019 31883642
Genetic association testing using the GENESIS R/Bioconductor package Bioinformatics 2019 31329242
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. American Journal of Human Genetics 2019 31668705
Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans Human Molecular Genetics 2019 30307499
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
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
Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies American Journal of Human Genetics 2019 30639324
A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies Genetic Epidemiology 2019 30653739
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent American Journal of Human Genetics 2019 31587867
Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans American Journal of Respiratory and Critical Care Medicine 2020 32966749
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium Nature Communications 2020 33046696
Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing Blood 2020 33094331
A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests Bioinformatics 2020 33367522
Asthma and its relationship to mitochondrial copy number: results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omic Precision Medicine (TOPMed) Program PLOS ONE 2020 33237978
An interaction of the 17q12-21 locus with mold exposure in childhood asthma Pediatric Allergy and Immunology 2020 32946604
Diversity of variant alleles encoding Kidd, Duffy and Kell antigens in Sickle Cell Disease patients using Whole Genome Sequencing data from the TOPMed Consortium TRANSFUSION 2020 33231305
Genome-wide Association of Kidney Traits in Hispanics/Latinos Using Dense Imputed Whole Genome Sequencing Data: The Hispanic Community Health Study/Study of Latinos Circulation: Genomic and Precision Medicine 2020 32600054
Haplotype-aware graph indexes Bioinformatics 2020 31406990
Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women Circulation 2020 33161765
Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways Journal of Allergy and Clinical Immunology 2020 32795586
Population-Specific Recombination Maps from Segments of Identity by Descent American Journal of Human Genetics 2020 32533945
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs Genome Medicine 2020 32988399
Effect of Sickle Cell Trait and APOL1 Genotype on the Association of Soluble uPAR with Kidney Function Measures in Blacks Clinical Journal of the American Society of Nephrology 2020 33268503
locStra: Fast analysis of regional/global stratification in whole genome sequencing (WGS) studies Genetic Epidemiology 2020 32929743
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder American Journal of Medical Genetics Part A 2020 33112498
Transcriptomic signatures across human tissues identify functional rare genetic variation Science 2020 32913073
A Novel Locus for Exertional Dyspnea in Childhood Asthma European Respiratory Journal 2020 32855217
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
Inherited causes of clonal haematopoiesis in 97,691 whole genomes Nature 2020 33057201
HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma Proceedings of the National Academy of Sciences of the United States of America 2020 31932420
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale Nature Genetics 2020 32839606
Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci Nature Genetics 2020 32066938
Comparison of Proteomic Assessment Methods in Multiple Cohort Studies Proteomics 2020 32386347
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease Nature Communications 2020 33339817
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants Nature Communications 2020 33057025
Proteomic signatures of lifestyle risk factors for cardiovascular disease: A cross-sectional analysis of the plasma proteome in the Framingham Heart Study Journal of the American Heart Association 2020 33372532
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
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
Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations Genetic Epidemiology 2020 32519380
Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma Genetics 2020 32327564
Evolutionary History of Modern Samoans Proceedings of the National Academy of Sciences 2020 32291332
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
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy Nature Communications 2020 32382064
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women Alzheimer’s & Dementia 2020 32966694
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium Genome Medicine 2021 33883027
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program American Journal of Human Genetics 2021 33887194
Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations Genes 2021 34356065
ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing Nature Genetics 2021 34568833
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine Initiative Human Molecular Genetics 2021 34553764
Alternative poly-adenylation modulates α1-anti-trypsin expression in chronic obstructive pulmonary disease PLOS Genetics 2021 34784346
Associations between DNA methylation and BMI vary by metabolic health status: a potential link to disparate cardiovascular outcomes Clin Epigenetics 2021 34937574
Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease European Respiratory Journal 2021 34762809
Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants ATVB 2021 33910371
eSCAN: Scan Regulatory Regions for Aggregate Association Testing using Whole Genome Sequencing Data AJHG 2021 34882196
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci Genome Medicine 2021 33931109
Metabo-Endotypes of Asthma Reveal Clinically Important Differences in Lung Function: Discovery and validation in two TOPMed Cohorts Am J Respir Crit Care Med 2021 34767496
Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure Journal of the American College of Cardiology 2021 34210413
Epigenome-wide association study of mitochondrial genome copy number Human Molecular Genetics 2021 34415308
Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies Briefings in Bioinformatics 2021 34015820
Whole genome sequencing in diverse subjects identifies new genetic correlates of leukocyte traits American Journal of Human Genetics 2021 34582791
Multiethnic genome-wide and HLA association study of total serum IgE level Journal of Allergy and Clinical Immunology 2021 34536413
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes Science 2021 34914532
Type 2 immune development depends on MARCH1-mediated turnover of MHCII and CD86 by lymph node resident dendritic cells Nature Immunology 2021 34652961
Whole Genome Sequence Analysis of the Plasma Proteome in Black Individuals Circulation 2021 34814699
A unified knockoff framework for gene-based testing with joint analysis of coding and regulatory variation AJHG 2021 34799441
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion Human Genetics and Genomics Advances 2021 34337551
Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults Circ Genom Precis Med 2021 34706549
Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative. JAHA 2021 33619969
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen Nature 2021 34855475
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging Genome Biology 2021 34187551
Novel recessive locus for body mass index in childhood asthma Thorax 2021 33888571
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians PLOS Genetics 2021 33571193
Association of mitochondrial DNA copy number with cardiometabolic diseases European Heart Journal 2021 35036986
A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program American Journal of Epidemiology 2021 33861317
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level Nature Communications 2021 34108454
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Nature Communications 2021 33846329
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium EBioMedicine 2021 33418499
Population sequencing data reveal a compendium of mutational processes in the human germ line Science 2021 34385354
Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program Nature Genetics 2021 34446064
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Nature 2021 33568819
Genome Sequencing Unveils a Regulatory Landscape of Platelet Reactivity Nature Communications 2021 34131117
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis Circulation: Genomic and Precision Medicine 2021 34319147
Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries Genetics 2021 33720349
Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project Stroke 2021 34727735
Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry Mitochondrion 2021 34303007
Identification of putative causal loci in whole-genome sequencing data via knockoff statistics Nature Communications 2021 34035245
A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response Nature Genetics 2021 34611364
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes Aging Cell 2021 34050697
Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program PLOS One 2021 34214102
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program Nat Commun. 2022 36481753
A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood Nat Commun. 2022 35729114
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program American Journal of Human Genetics 2022 35385699
Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population Am J Kidney Dis. 2022 36241009
Assessing the Contribution of Rare Genetic Variants to Phenotypes of Chronic Obstructive Pulmonary Disease Using Whole-Genome Sequencing Data Hum Mol Genet. 2022 35766891
Rare Genetic Variants Associated with Myocardial Fibrosis; Multi-Ethnic Study of Atherosclerosis (MESA) Frontiers in Cardiovascular Medicine 2022 35265679
Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals Nature Communications 2022 35995766
GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing Commun Biol 2022 35953715
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function Hypertension 2022 36193739
Accounting for population structure in genetic studies of cystic fibrosis Human Genetics and Genomic Advances 2022 35647563
Diet Quality Scores are Positively Associated with Whole Blood-derived Mitochondrial DNA Copy Number in the Framingham Heart Study journal of nutrition 2022 34875096
Whole genome sequence analysis of blood lipid levels in >66,000 individuals Nat Commun 2022 36220816
Genetic diversity fuels gene discovery for tobacco and alcohol use Nature 2022 36477530
Clonal Hematopoiesis Is Associated With Higher Risk of Stroke Stroke 2022 34743536
Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease Hum Mol Genet. 2022 36444934
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies Nat Methods 2022 36303018
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data NAR Genom Bioinform 2022 35591888
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits American Journal of Human Genetics 2022 35716666
Gene Expression Associations with Body Mass Index in the Multi-Ethnic Study of Atherosclerosis International Journal of Obesity 2022 36463326
Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases Scientific Report 2022 36424512
Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease Nature Communications 2022 36097025
Social and scientific motivations to move beyond groups in allele frequencies: the TOPMed experience American Journal of Human Genetics 2022 36055210
DDX58 is Associated with Susceptibility to Severe Influenza Virus Infection in Children and Adolescents Journal of Infectious Diseases 2022 35986912
Extent to which array genotyping and imputation with large reference panels approximates deep whole genome sequencing American Journal of Human Genetics 2022 35981533
Arsenic Exposure, Blood DNA Methylation, and Cardiovascular Disease Circulation Research 2022 35658476
Elucidating the genetic architecture of DNA methylation to identify promising molecular mechanisms of disease Scientific Report 2022 36380121
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations Frontiers in Endocrinology 2022 35592775
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes J. Exp. Med. 2022 35442418
Genome-Wide Association Study in Minority Children with Asthma Implicates DNAH5 in Bronchodilator Responsiveness Scientific Reports 2022 35869121
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies Human Molecular Genetics 2022 36255742
A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles HGG Advances 2022 36340932
Development and validation of a metabolite index for obstructive sleep apnea across race/ethnicities Scientific Reports 2022 36526671
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data American Journal of Human Genetics 2022 35504290
Nontargeted and Targeted Metabolomic Profiling Reveals Novel Metabolite Biomarkers of Incident Diabetes in African Americans Diabetes 2022 35998269
Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea Am J Respir Crit Care Med. 2022 35822943
Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants HGG Advances 2022 36568030
A smoothed version of the Lassosum penalty for fitting integrated risk models Genes (Basel) 2022 35052450
Integration of rare expression outlier-associated variants improves polygenic risk prediction Am J Hum Genet 2022 35588732
Rare genetic variants explain missing heritability in smoking Nature Human Behaviour 2022 35927319
Monogenic and Polygenic Contributions to QTc Prolongation in the Population Circulation 2022 35389749
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data Nat Genet. 2022 35256806
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed Cell Genom 2022 35530816
Lymphocyte activation gene-3-associated protein networks are associated with HDL-cholesterol and mortality in the Trans-omics for Precision Medicine program Commun Biol 2022 35501457
Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis Am J Respir Crit Care Med. 2022 35536696
Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease Blood 2022 34855941
Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis Respir Res 2022 35449067
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension Hypertension 2022 35652341
Rare coding variants in RCN3 are associated with blood pressure BMC Genomics 2022 35183128
Differences in Metabolomic Profiles Between Black and White Women and Risk of Coronary Heart Disease: an Observational Study of Women From Four US Cohorts Circ Res. 2022 36052690
Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program Commun Biol. 2022 35902682
Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes Cell Genomics 2022 34932938
CFTR variants are associated with chronic bronchitis in smokers European Respiratory Journal 2022 34996830
Correlations between complex human phenotypes vary by genetic background, gender, and environment Cell Rep Med. 2022 36513073
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes Nat Commun. 2022 36042188
Epigenome-wide association study of lung function in Latino children and youth with asthma Clinical Epigenetics 2022 35033200
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology Nat Commun 2022 35347136
The impact of Mendelian sleep and circadian genetic variants in a population setting PLoS Genetics 2022 36137075
Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based mendelian randomization study Sci Rep 2022 35087136
Protein prediction for trait mapping in diverse populations PLoS One 2022 35202437
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential Science Advances 2022 35385311
Clonal hematopoiesis in sickle cell disease Nature Medicine 2022 34990411
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program Cell Genomics 2022 36119389
Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations Commun Biol. 2022 35995843
MUC5B, telomere length and longitudinal quantitative interstitial lung changes: the MESA Lung Study Thorax 2022 36690926
Whole Genome Sequence Analysis of Apparent Treatment Resistant Hypertension Status in Participants from the Trans-Omics for Precision Medicine Program Frontiers in Genetics- Special Issue on "Linking Genetic Variation to Drug Response: Discovery and Challenges" 2023 38162683
Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk Journal of the American Heart Association 2023 37804200
Novel insights into the whole blood DNA methylome of asthma in ethnically diverse children and youth European Respiratory Journal 2023 37802634
Multi-ancestry epigenome-wide analyses identify methylated sites associated with aortic augmentation index in TOPMed MESA Scientific Reports 2023 37848499
Protein-Metabolite Association Studies Identify Novel Proteomic Determinants of Metabolite Levels in Human Plasma Cell Metabolism 2023 37582364
Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci Br J Haematol 2023 36602125
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing Nature Genetics 2023 37904051
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma EBioMedicine 2023 37598461
Clonal Somatic Mutations in Chronic Lung Diseases Are Associated with Reduced Lung Function Am J Respir Crit Care Med. 2023 37788444
Canonical correlation analysis for multi-omics: Application to cross-cohort analysis PLOS Genetics 2023 37216410
Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis Circulation: Genomic and Precision Medicine 2023 38014529
Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas Cell Genomics 2023 38190104
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants Genetics 2023 37348055
Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk Diabetes Care 2023 37756531
Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations HGG Advances 2023 37869564
Epigenomic Response to Albuterol Treatment in Asthma-Relevant Airway Epithelial Cells Clinical Epigenetics 2023 37784136
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study American Journal of Human Genetics 2023 37802043
Investigating gene-diet interactions impacting the association between macronutrient intake and glycemic traits Diabetes 2023 36791419
Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing Nature Genetics 2023 36702996
Zinc finger protein 33B demonstrates sex interaction with atopy-related markers in childhood asthma Eur Respir J . 2023 35953101
Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts Annals of the American Thoracic Society 2023 37351609
Multi-Omic Approach Associates Blood Methylome with Bronchodilator Drug Response in Pediatric Asthma J Allergy Clin Immunol. 2023 36796456
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes Sci Adv. 2023 37126548
Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth Thorax 2023 36180068
Clonal hematopoiesis is associated with protection from Alzheimer’s disease Nature Medicine 2023 37322115
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Nature 2023 37046083
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies Nature Genetics 2023 36564505
Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations Nature Communications 2023 37253714
Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups Nat. Commun. 2023 37268629
Clonal hematopoiesis and risk of chronic liver disease Nature 2023 37046084
Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants Am J Respir Crit Care Med. 2023 36602845
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease JAMA Cardiology 2023 36723951
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts Neurology 2023 36927883
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk Nature Genetics 2023 36914875
An atlas of genetic scores to predict multi-omic traits Nature 2023 36991119
Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study Scientific Reports 2023 37563237
Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis Respiratory Research 2023 36698131
A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels Blood 2024 38320121
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects American Journal of Human Genetics 2024 38181730
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits AJHG 2024 38320554
Metabolite signatures associated with microRNA miR-143-3p serve as drivers of poor lung function trajectories in childhood asthma eBioMedicine 2024 38458111
CSV

Preprints

Title Preprint date Preprint DOI
Proteomic Signature of HIV-Associated Subclinical Left Atrial Remodeling and Incident Heart Failure 2024 medRxiv
Machine learning models for blood pressure phenotypes combining multiple polygenic risk scores 2023 medRxiv
Mitochondrial DNA Copy Number Variation in Asthma Risk, Severity, and Exacerbations 2023 medRxiv
Whole Genome association testing in 333,100 individuals across three Biobanks identifies rare non-coding single variant and genomic aggregate associations with height 2023 bioRxiv
Lac-Phe mediates the anti-obesity effect of metformin 2023 bioRxiv
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies 2023 bioRxiv
Improving imputation quality in Samoans through the integration of population-specific sequences into existing reference panels 2023 medRxiv
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE 2023 medRxiv
Carriers of rare damaging CCR2 genetic variants are at lower risk of atherosclerotic disease 2023 medRxiv
The Relationship of Duffy Gene Polymorphism, High Sensitivity C-Reactive Protein, and Long-term Outcomes 2023 medRxiv
Human Plasma Proteomic Profile of Clonal Hematopoiesis 2023 medRxiv
Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes 2023 bioRxiv
StocSum: stochastic summary statistics for whole genome sequencing studies 2023 bioRxiv
Genetic regulation of fetal hemoglobin across global populations 2023 medRxiv
Structural variation across 138,134 samples in the TOPMed consortium 2023 bioRxiv
Genetic Regulators of Sputum Mucin Concentration Revealed by GWAS and Their Associations with Chronic Bronchitis and Acute Exacerbations of COPD 2022 bioRxiv
The functional impact of rare variation across the regulatory cascade 2022 bioRxiv
A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity 2021 medRxiv
Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture 2021 10.1101/2021.08.19.456901
find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences 2020 10.1101/2020.11.23.394296
Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes 2020 10.1101/2020.11.13.20221812
Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing 2020 10.1101/2020.10.20.20203927
Mechanisms Linking Blood Type, Blood Proteins, and COVID-19: Insights from Black and White Populations 2020 10.1101/2020.06.09.20125690
Rare variant enriched identity-by-descent enables the detection of distant relatedness and older divergence between populations 2020 10.1101/2020.05.05.079541
Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes 2020 10.1101/2020.05.02.074096
CSV