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TOPMed

Publications

Submitting Author Title Journal Name Publication Date PMID Associated Proposal ID(s)
Keshawarz, Amena Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study Scientific Reports 37563237 10754
Sofer, Tamar Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups Nat. Commun. 37268629 7191
Yu, Bing Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations Nature Communications 37253714 10043
Pino-Yanes, Maria Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth Thorax 36180068 13069
Pino-Yanes, Maria Multi-Omic Approach Associates Blood Methylome with Bronchodilator Drug Response in Pediatric Asthma J Allergy Clin Immunol. 36796456 12287
Li, Xihao Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies Nature Genetics 36564505 9798
Weinstock, Joshua Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Nature 37046083 9857
Jaiswal, Sidd Clonal hematopoiesis is associated with protection from Alzheimer’s disease Nature Medicine 37322115 6036
Weinstock, Joshua The genetic determinants of recurrent somatic mutations in 43,693 blood genomes Sci Adv. 37126548 10060
Lee, Sanghun Zinc finger protein 33B demonstrates sex interaction with atopy-related markers in childhood asthma Eur Respir J . 35953101 10140
Liu, Dajiang Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing Nature Genetics 36702996 9120
Benos, Takis Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis Respiratory Research 36698131 10988
Emdin, Connor Clonal hematopoiesis and risk of chronic liver disease Nature 37046084 9041
Manichaikul, Ani Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts Annals of the American Thoracic Society 37351609 7221
Robinson-Cohen, Cassianne Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population Am J Kidney Dis. 36241009 4698
Konigsberg, Iain Gene Expression Associations with Body Mass Index in the Multi-Ethnic Study of Atherosclerosis International Journal of Obesity 36463326 14732
Zhu, Xiaofeng Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea Am J Respir Crit Care Med. 35822943 7616
Carlson, Jenna A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles HGG Advances 36340932 7109
Hecker, Julian FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies Human Molecular Genetics 36255742 11217
Young, Kristin Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants HGG Advances 36568030 4753
Lee, Sanghun DDX58 is Associated with Susceptibility to Severe Influenza Virus Infection in Children and Adolescents Journal of Infectious Diseases 35986912 13457
Liu, Chunyu Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases Scientific Report 36424512 6718
Uddin, Md Mesbah Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease Nature Communications 36097025 13907
Sofer, Tamar Social and scientific motivations to move beyond groups in allele frequencies: the TOPMed experience American Journal of Human Genetics 36055210 13483
Hanks, Sarah Extent to which array genotyping and imputation with large reference panels approximates deep whole genome sequencing American Journal of Human Genetics 35981533 7193
Domingo-Relloso, Arce Arsenic Exposure, Blood DNA Methylation, and Cardiovascular Disease Circulation Research 35658476 13625
Ma, Jiantao Elucidating the genetic architecture of DNA methylation to identify promising molecular mechanisms of disease Scientific Report 36380121 6722
Wang, Zhe The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations Frontiers in Endocrinology 35592775 10214
Minster, Ryan L A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes J. Exp. Med. 35442418 13593
Himes, Blanca Genome-Wide Association Study in Minority Children with Asthma Implicates DNAH5 in Bronchodilator Responsiveness Scientific Reports 35869121 5936
Sofer, Tamar Development and validation of a metabolite index for obstructive sleep apnea across race/ethnicities Scientific Reports 36526671 13087
Saunders, Gretchen Genetic diversity fuels gene discovery for tobacco and alcohol use Nature 36477530 1192
Auer, Paul TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data American Journal of Human Genetics 35504290 10711
Chen, Zsu-Zsu Nontargeted and Targeted Metabolomic Profiling Reveals Novel Metabolite Biomarkers of Incident Diabetes in African Americans Diabetes 35998269 12802
Patel, Roshni Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits American Journal of Human Genetics 35716666 10194
Battle, Stephanie A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data NAR Genom Bioinform 35591888 3129
Sofer, Tamar A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood Nat Commun. 35729114 12138
Wheeler, Marsha Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program Nat Commun. 36481753 12031
Manichaikul, Ani 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 35385699 4649
Kim, Wonji Assessing the Contribution of Rare Genetic Variants to Phenotypes of Chronic Obstructive Pulmonary Disease Using Whole-Genome Sequencing Data Hum Mol Genet. 35766891 9053
Shabani, Mahsima Rare Genetic Variants Associated with Myocardial Fibrosis; Multi-Ethnic Study of Atherosclerosis (MESA) Frontiers in Cardiovascular Medicine 35265679 9631
Page, Grier GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing Commun Biol 35953715 10064
Li, Zilin A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies Nat Methods 36303018 9924
Kelly, Tanika Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease Hum Mol Genet. 36444934 11127
Bhattacharya, Romit Clonal Hematopoiesis Is Associated With Higher Risk of Stroke Stroke 34743536 7859
Selvaraj, Margaret Sunitha Whole genome sequence analysis of blood lipid levels in >66,000 individuals Nat Commun 36220816 9318
Ma, Jiantao Diet Quality Scores are Positively Associated with Whole Blood-derived Mitochondrial DNA Copy Number in the Framingham Heart Study journal of nutrition 34875096 12425
Blue, Elizabeth Accounting for population structure in genetic studies of cystic fibrosis Human Genetics and Genomic Advances 35647563 11282
Blobner, Brandon Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function Hypertension 36193739 3022
Tahir, Usman Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals Nature Communications 35995766 9226
241 Publications
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