TOPMed
Publications
| Submitting Author | Title | Journal Name | Publication Date Sort ascending | PMID | Associated Proposal ID(s) |
|---|---|---|---|---|---|
| Hu, Yao | Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program | American Journal of Human Genetics | 33887194 | 1084 | |
| Lappalainen, Tuuli | Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium | Genome Medicine | 33883027 | 10503 | |
| Liu, Chunyu | Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry | Mitochondrion | 34303007 | 8615 | |
| Hu, Yao | Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project | Stroke | 34727735 | 1695 | |
| Cho, Michael | Identification of putative causal loci in whole-genome sequencing data via knockoff statistics | Nature Communications | 34035245 | 9803 | |
| 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 | |
| Jaiswal, Sidd | Clonal hematopoiesis associated with epigenetic aging and clinical outcomes | Aging Cell | 34050697 | 6786 | |
| Sarnowski, Chloé | 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 | 34214102 | 4980 | |
| Kang, Hyun Min | Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries | Genetics | 33720349 | 6573 | |
| 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 | |
| Horvath, Steve | Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging | Genome Biology | 34187551 | 6716 | |
| Lee, Sanghun | Novel recessive locus for body mass index in childhood asthma | Thorax | 33888571 | 8964 | |
| Russell, Emily | The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians | PLOS Genetics | 33571193 | 8910 | |
| Liu, Chunyu | Association of mitochondrial DNA copy number with cardiometabolic diseases | European Heart Journal | 35036986 | 2618 | |
| Stilp, Adrienne | A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program | American Journal of Epidemiology | 33861317 | 8222 | |
| Sofer, Tamar | Variant-specific inflation factors for assessing population stratification at the phenotypic variance level | Nature Communications | 34108454 | 3233 | |
| Peloso, Gina | Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices | Nature Communications | 33846329 | 8062 | |
| Franceschini, Nora | Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium | EBioMedicine | 33418499 | 1256, 1822 | |
| Seplyarskiy, Vladimir | Population sequencing data reveal a compendium of mutational processes in the human germ line | Science | 34385354 | 1297 | |
| Cade, Brian | Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program | Nature Genetics | 34446064 | 1866 | |
| Taliun, Daniel | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 33568819 | 5137, 5525, 5526 | |
| Mathias, Rasika | Genome Sequencing Unveils a Regulatory Landscape of Platelet Reactivity | Nature Communications | 34131117 | 922 | |
| Montasser, May E. | Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen | Nature | 34855475 | 2394 | |
| Corlin, Laura | 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 | 33372532 | 7581 | |
| Zein, Joe | HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma | Proceedings of the National Academy of Sciences of the United States of America | 31932420 | 8666 | |
| Reiner, Alex | 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 | 33268503 | 10071 | |
| Browning, Sharon | Population-Specific Recombination Maps from Segments of Identity by Descent | American Journal of Human Genetics | 32533945 | ||
| Honigberg, Michael | Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women | Circulation | 33161765 | 10143 | |
| Franceschini, Nora | 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 | 32600054 | ||
| Paten, Benedict | Haplotype-aware graph indexes | Bioinformatics | 31406990 | 4548 | |
| Li, Xingnan | Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways | Journal of Allergy and Clinical Immunology | 32795586 | 8051 | |
| Minster, Ryan L | ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder | American Journal of Medical Genetics Part A | 33112498 | 9719 | |
| Liu, Chunyu | Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs | Genome Medicine | 32988399 | 19694 | |
| Lange, Christoph | locStra: Fast analysis of regional/global stratification in whole genome sequencing (WGS) studies | Genetic Epidemiology | 32929743 | 8894 | |
| Ferraro, Nicole | Transcriptomic signatures across human tissues identify functional rare genetic variation | Science | 32913073 | 9172 | |
| Dinardo, Carla | 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 | 33231305 | 6952 | |
| Lee, Sanghun | An interaction of the 17q12-21 locus with mold exposure in childhood asthma | Pediatric Allergy and Immunology | 32946604 | 8947 | |
| Williams, L. Keoki | Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans | American Journal of Respiratory and Critical Care Medicine | 32966749 | 9171 | |
| Mak, Angel CY | Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium | Nature Communications | 33046696 | 9542 | |
| Taub, Margaret | Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole genome and RNA sequencing | Blood | 33094331 | 927 | |
| Lee, Sanghun | A Novel Locus for Exertional Dyspnea in Childhood Asthma | European Respiratory Journal | 32855217 | 8963 | |
| 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 | |
| Blue, Elizabeth | Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women | Alzheimer’s & Dementia | 32966694 | 6086 | |
| 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 | |
| Mak, Angel CY | Whole Genome Sequencing Identifies Novel Functional Loci Associated With Lung Function in Puerto Rican Youth | American Journal of Respiratory and Critical Care Medicine | 32459537 | 9022 | |
| Pezant, Nathan | Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans | Ocular Immunology and Inflammation | 32141793 | 2644 | |
| Pirruccello, James | Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy | Nature Communications | 32382064 | 7846 | |
| Mak, Angel CY | Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma | Genetics | 32327564 | 1274 | |
| Bick, Alexander | Inherited causes of clonal haematopoiesis in 97,691 whole genomes | Nature | 33057201 | 3551 | |
| Gutierrez-Arcelus, Maria | Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci | Nature Genetics | 32066938 | 7188 |
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