Do, Ron

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

Verbanck, M., Chen, C.-Y., Neale, B., & Do, R. (2018) · Nature Genetics

Genetic Associations and EpidemiologyAdvanced Causal Inference Techniques

Cited by 8,591

A high-coverage genome sequence from an archaic denisovan individual

Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 1,967

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Cardiogenics, Schunkert, H., the CARDIoGRAM Consortium, König, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., Preuss, M., Stewart, A. F. R., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,866

Large-scale association analysis identifies new risk loci for coronary artery disease

The CARDIoGRAMplusC4D Consortium, Deloukas, P., DIAGRAM Consortium, CARDIOGENICS Consortium, MuTHER Consortium, Wellcome Trust Case Control Consortium, Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,614

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,613

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., et al. (2015) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,303

Genetic analyses of diverse populations improves discovery for complex traits

Wojcik, G. L., Graff, M., Nishimura, K. K., Tao, R., Haessler, J., Gignoux, C. R., Highland, H. M., Patel, Y. M., Sorokin, E. P., Avery, C. L., et al. (2019) · Nature

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 1,033

Common variants associated with plasma triglycerides and risk for coronary artery disease

Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 862

Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 754

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 650

Searching for missing heritability: Designing rare variant association studies

Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 635

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., et al. (2016) · Science

Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular Health

Cited by 545

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

Diabetes Genetics Replication and Meta-analysis Consortium, Stahl, E. A., Myocardial Infarction Genetics Consortium, Wegmann, D., Trynka, G., Gutierrez-Achury, J., Do, R., Voight, B. F., Kraft, P., Chen, R., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyRheumatoid Arthritis Research and Therapies

Cited by 388

Exome sequencing and the genetic basis of complex traits

Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 372

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 342

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 340

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

Ulirsch, J. C., Nandakumar, S. K., Wang, L., Giani, F. C., Zhang, X., Rogov, P., Melnikov, A., McDonel, P., Do, R., Mikkelsen, T. S., et al. (2016) · Cell

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 328

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 272

Association of Low-Density Lipoprotein Cholesterol–Related Genetic Variants With Aortic Valve Calcium and Incident Aortic Stenosis

Smith, J. G., Luk, K., Schulz, C.-A., Engert, J. C., Do, R., Hindy, G., Rukh, G., Dufresne, L., Almgren, P., Owens, D. S., et al. (2014) · JAMA

Cardiac Valve Diseases and TreatmentsLipoproteins and Cardiovascular Health

Cited by 238

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

Voight, B. F., Peloso, G. M., Orho-Melander, M., Frikke-Schmidt, R., Barbalic, M., Jensen, M. K., Hindy, G., Hólm, H., Ding, E. L., Johnson, T., et al. (2012) · The Lancet

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 148

HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases

Jordan, D. M., Verbanck, M., & Do, R. (2019) · Genome Biology

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 73

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

Cited by 33

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction

Small, A. M., Yang, T.-Y., Itoh, S., Thériault, S., Dufresne, L., Kurosawa, R., Komuro, I., Matsuda, K., Vy, H. M. T., Farber-Eger, E. H., et al. (2026) · Nature Genetics

Cardiac Valve Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 18