Kathiresan, Sekar

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 492

New susceptibility locus for coronary artery disease on chromosome 3q22.3

Italian Atherosclerosis, T., Erdmann, J., Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Cardiogenics Consortium, Großhennig, A., Braund, P. S., König, I. R., Hengstenberg, C., Hall, A. S., et al. (2009) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 484

ANGPTL3 deficiency and protection against coronary artery disease

Stitziel, N. O., Khera, A. V., Wang, X., Bierhals, A. J., Vourakis, A. C., Sperry, A. E., Natarajan, P., Klarin, D., Emdin, C. A., Zekavat, S. M., et al. (2017) · Journal of the American College of Cardiology

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 467

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression

Gupta, R. M., Hadaya, J., Trehan, A., Zekavat, S. M., Roselli, C., Klarin, D., Emdin, C. A., Hilvering, C. R. E., Bianchi, V., Mueller, C., et al. (2017) · Cell

Genetic Associations and EpidemiologyCerebrovascular and genetic disorders

Cited by 450

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Mahajan, A., Wessel, J., Willems, S. M., Zhao, W., Robertson, N. R., Chu, A. Y., Gan, W., Kitajima, H., Taliun, D., Rayner, N. W., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 442

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

Johansen, C. T., Wang, J., Lanktree, M. B., Cao, H., McIntyre, A. D., Ban, M. R., Martins, R. A., Kennedy, B. A., Hassell, R. G., Visser, M. E., et al. (2010) · Nature Genetics

Lipid metabolism and disordersGenetic Associations and Epidemiology

Cited by 437

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

Genetic Association of Waist-to-Hip Ratio With Cardiometabolic Traits, Type 2 Diabetes, and Coronary Heart Disease

Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Zekavat, S. M., Hsiao, A. J., & Kathiresan, S. (2017) · JAMA

Genetic Associations and EpidemiologyDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 378

The All of Us Research Program: Data quality, utility, and diversity

Ramirez, A. H., Sulieman, L., Schlueter, D. J., Halvorson, A., Qian, J., Ratsimbazafy, F., Loperena, R., Mayo, K., Basford, M., Deflaux, N., et al. (2022) · Patterns

Electronic Health Records SystemsEthics in Clinical Research

Cited by 352

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

Forty-Three Loci Associated with Plasma Lipoprotein Size, Concentration, and Cholesterol Content in Genome-Wide Analysis

Chasman, D. I., Paré, G., Mora, S., Hopewell, J. C., Peloso, G., Clarke, R., Cupples, L. A., Hamsten, A., Kathiresan, S., Mälarstig, A., et al. (2009) · PLoS Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 337

Genetic evidence of assortative mating in humans

Robinson, M. R., Kleinman, A., Graff, M., Vinkhuyzen, A. A. E., Couper, D., Miller, M. B., Peyrot, W. J., Abdellaoui, A., Zietsch, B. P., Nolte, I. M., et al. (2017) · Nature Human Behaviour

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 326

Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease

The Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Consortium, Lu, X., Wang, L., Chen, S., He, L., Yang, X., Shi, Y., Cheng, J., Zhang, L., Gu, C. C., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 319

Vitamin K and vitamin D status: associations with inflammatory markers in the Framingham Offspring Study

Shea, M. K., Booth, S. L., Massaro, J. M., Jacques, P. F., D'Agostino, R. B., Dawson-Hughes, B., Ordovas, J. M., O'Donnell, C. J., Kathiresan, S., Keaney, J. F., et al. (2007) · American Journal of Epidemiology

Vitamin K Research StudiesVitamin D Research Studies

Cited by 316

Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

Khera, A. V., Chaffin, M., Zekavat, S. M., Collins, R. L., Roselli, C., Natarajan, P., Lichtman, J. H., D’Onofrio, G., Mattera, J., Dreyer, R., et al. (2019) · Circulation

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 315

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

CHARGE-Heart Failure Consortium, Surendran, P., EchoGen Consortium, METASTROKE Consortium, GIANT Consortium, EPIC-InterAct Consortium, Study, L. C., Wellcome Trust Case Control Consortium, Understanding Society Scientific Group, EPIC-CVD Consortium, et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 312

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history

Tada, H., Melander, O., Louie, J. Z., Catanese, J. J., Rowland, C. M., Devlin, J. J., Kathiresan, S., & Shiffman, D. (2016) · European Heart Journal

Genetic Associations and EpidemiologyNutrition, Genetics, and Disease

Cited by 285

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

Pirruccello, J. P., Bick, A., Wang, M., Chaffin, M., Friedman, S., Yao, J., Guo, X., Venkatesh, B. A., Taylor, K. D., Post, W. S., et al. (2020) · Nature Communications

Cardiomyopathy and Myosin StudiesGenetic Associations and Epidemiology

Cited by 267

Genetics and causality of triglyceride-rich lipoproteins in atherosclerotic cardiovascular disease

Rosenson, R. S., Davidson, M. H., Hirsh, B. J., Kathiresan, S., & Gaudet, D. (2014) · Journal of the American College of Cardiology

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 260

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 249

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Won, H.-H., Peloso, G. M., Stitziel, N. O., Nomura, A., Zekavat, S. M., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 244

Cardiovascular Event Prediction and Risk Reclassification by Coronary, Aortic, and Valvular Calcification in the Framingham Heart Study

Hoffmann, U., Massaro, J. M., D'Agostino, R. B., Kathiresan, S., Fox, C. S., & O'Donnell, C. J. (2016) · Journal of the American Heart Association

Cardiac Imaging and DiagnosticsCardiac Valve Diseases and Treatments

Cited by 239

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

Prospective functional classification of all possible missense variants in PPARG

UK Monogenic Diabetes Consortium, Majithia, A. R., Myocardial Infarction Genetics Consortium, UK Congenital Lipodystrophy Consortium, Tsuda, B., Agostini, M., Gnanapradeepan, K., Rice, R., Peloso, G., Patel, K. A., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesPeroxisome Proliferator-Activated Receptors

Cited by 227