TOPMed
Publications
| Submitting Author | Title Sort descending | Journal Name | Publication Date | PMID | Associated Proposal ID(s) |
|---|---|---|---|---|---|
| Lubitz, Steven | Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis | Circulation: Genomic and Precision Medicine | 34319147 | 2898 | |
| Manichaikul, Ani | Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants | Nature Communications | 33057025 | 7377 | |
| Battle, Stephanie | A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data | NAR Genom Bioinform | 35591888 | 3129 | |
| Hu, Yao | A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans | Blood | 29764838 | 3320 | |
| Cho, Michael | A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. | Genetic Epidemiology | 31713269 | ||
| Li, Zilin | A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies | Nat Methods | 36303018 | 9924 | |
| Sofer, Tamar | A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies | Genetic Epidemiology | 30653739 | 3419 | |
| de Vries, Paul | A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels | Blood | 38320121 | 3158 | |
| Sun, Quan | A genome-wide association study of alloimmunization in the TOPMed OMG-SCD cohort identifies a locus on chromosome 12 | Transfusion | 38966903 | 15041 | |
| Luo, Yang | A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response | Nature Genetics | 34611364 | 2665 | |
| Minster, Ryan L | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes | J. Exp. Med. | 35442418 | 13593 | |
| Sofer, Tamar | A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood | Nat Commun. | 35729114 | 12138 | |
| Lee, Sanghun | A Novel Locus for Exertional Dyspnea in Childhood Asthma | European Respiratory Journal | 32855217 | 8963 | |
| Hahn, Georg | A smoothed version of the Lassosum penalty for fitting integrated risk models | Genes (Basel) | 35052450 | 12851 | |
| Li, Xihao | A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies | Nature Computational Science | 39920506 | 10000 | |
| Carlson, Jenna | A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles | HGG Advances | 36340932 | 7109 | |
| Stilp, Adrienne | A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program | American Journal of Epidemiology | 33861317 | 8222 | |
| Cho, Michael | A unified knockoff framework for gene-based testing with joint analysis of coding and regulatory variation | AJHG | 34799441 | 10964 | |
| Hecker, Julian | A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests | Bioinformatics | 33367522 | 7883 | |
| Weinstock, Joshua | Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis | Nature | 37046083 | 9857 | |
| Blue, Elizabeth | Accounting for population structure in genetic studies of cystic fibrosis | Human Genetics and Genomic Advances | 35647563 | 11282 | |
| Pino-Yanes, Maria | Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth | Thorax | 36180068 | 13069 | |
| Gutierrez-Arcelus, Maria | Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci | Nature Genetics | 32066938 | 7188 | |
| Auer, Paul | Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts | American Journal of Human Genetics | 31883642 | 6684 | |
| Ghosh, Auyon | Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease | European Respiratory Journal | 34762809 | 7406 | |
| Cho, Michael | Alternative poly-adenylation modulates α1-anti-trypsin expression in chronic obstructive pulmonary disease | PLOS Genetics | 34784346 | 10751 | |
| Mitchell, Braxton | An APOO pseudogene on chromosome 5q regulates LDL-C levels | Circulation | 29593015 | 520 | |
| Tahir, Usman | An atlas of genetic scores to predict multi-omic traits | Nature | 36991119 | 13868 | |
| Geng, Xin | An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. | Journal of Lipid Research | 29463568 | 2275 | |
| Geng, Xin | An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. | Frontiers in Genetics | 30863429 | 2275 | |
| Lee, Sanghun | An interaction of the 17q12-21 locus with mold exposure in childhood asthma | Pediatric Allergy and Immunology | 32946604 | 8947 | |
| Brody, Jennifer | Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology | Nature Genetics | 29074945 | 1421 | |
| Pirruccello, James | Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy | Nature Communications | 32382064 | 7846 | |
| Szpiech, Zachary | Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity | American Journal of Human Genetics | 31543216 | 5126 | |
| Domingo-Relloso, Arce | Arsenic Exposure, Blood DNA Methylation, and Cardiovascular Disease | Circulation Research | 35658476 | 13625 | |
| 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 | |
| Visscher, Peter | Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data | Nat Genet. | 35256806 | 3235 | |
| Liu, Chunyu | Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application | Mitochondrion | 39245194 | 12691 | |
| Ellinor, Patrick | Association between titin loss-of-function variants and early-onset atrial fibrillation. | JAMA: The Journal of the American Medical Association | 30535219 | 2254 | |
| Liu, Chunyu | Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk | Journal of the American Heart Association | 37804200 | 3129 | |
| Cho, Michael | Association of Clonal Hematopoiesis with Chronic Obstructive Pulmonary Disease | Blood | 34855941 | 6641 | |
| Satizabal , Claudia | Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts | Neurology | 36927883 | 12636 | |
| Liu, Chunyu | Association of mitochondrial DNA copy number with cardiometabolic diseases | European Heart Journal | 35036986 | 2618 | |
| Dron, Jacqueline | 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 | 36723951 | 14257 | |
| Justice, Anne | Associations between DNA methylation and BMI vary by metabolic health status: a potential link to disparate cardiovascular outcomes | Clin Epigenetics | 34937574 | 11924 | |
| Williams, L. Keoki | 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 | 33237978 | 6618 | |
| Sofer, Tamar | Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies | Briefings in Bioinformatics | 34015820 | 7617 | |
| Sofer, Tamar | 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 | 34337551 | 4549 | |
| Raffield, Laura | Canonical correlation analysis for multi-omics: Application to cross-cohort analysis | PLOS Genetics | 37216410 | 10110 | |
| Arora, Pankaj | Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers | JACC Heart Failure | 39520444 | 14719 |
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