Altshuler, David

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 599

TXNIP regulates peripheral glucose metabolism in humans

Parikh, H., Carlsson, E., Chutkow, W. A., Johansson, L. E., Storgaard, H., Poulsen, P., Saxena, R., Ladd, C., Schulze, P. C., Mazzini, M. J., et al. (2007) · PLoS Medicine

Metabolism, Diabetes, and CancerAdipose Tissue and Metabolism

Cited by 495

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

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

Segrè, A. V., DIAGRAM Consortium, MAGIC investigators, Groop, L., Mootha, V. K., Daly, M. J., & Altshuler, D. (2010) · PLoS Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 463

A High-Density Admixture Map for Disease Gene Discovery in African Americans

Smith, M. W., Patterson, N., Lautenberger, J. A., Truelove, A. L., McDonald, G. J., Waliszewska, A., Kessing, B. D., Malasky, M. J., Scafe, C., Le, E., et al. (2004) · The American Journal of Human Genetics

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 459

Three functional variants of IFN regulatory factor 5 ( IRF5 ) define risk and protective haplotypes for human lupus

Graham, R. R., Kyogoku, C., Sigurdsson, S., Vlasova, I. A., Davies, L. R. L., Baechler, E. C., Plenge, R. M., Koeuth, T., Ortmann, W. A., Hom, G., et al. (2007) · Proceedings of the National Academy of Sciences

Systemic Lupus Erythematosus ResearchGenetic Associations and Epidemiology

Cited by 450

Whole population, genome-wide mapping of hidden relatedness

Gusev, A., Lowe, J. K., Stoffel, M., Daly, M. J., Altshuler, D., Breslow, J. L., Friedman, J. M., & Pe'er, I. (2009) · Genome Research

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 450

Demonstrating stratification in a European American population

Campbell, C. D., Ogburn, E. L., Lunetta, K. L., Lyon, H. N., Freedman, M. L., Groop, L. C., Altshuler, D., Ardlie, K. G., & Hirschhorn, J. N. (2005) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 444

Detection of regulatory variation in mouse genes

Cowles, C. R., Hirschhorn, J. N., Altshuler, D., & Lander, E. S. (2002) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 381

The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits

Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 329

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 304

Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the Diabetes Prevention Program

Jablonski, K. A., McAteer, J. B., de Bakker, P. I. W., Franks, P. W., Pollin, T. I., Hanson, R. L., Saxena, R., Fowler, S., Shuldiner, A. R., Knowler, W. C., et al. (2010) · Diabetes

Genetic Associations and EpidemiologyNutrition, Genetics, and Disease

Cited by 271

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 266

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 259

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

Updated genetic score based on 34 confirmed type 2 diabetes loci is associated with diabetes incidence and regression to normoglycemia in the Diabetes Prevention Program

Hivert, M.-F., Jablonski, K. A., Perreault, L., Saxena, R., McAteer, J. B., Franks, P. W., Hamman, R. F., Kahn, S. E., Haffner, S., the DIAGRAM Consortium, et al. (2011) · Diabetes

Genetic Associations and EpidemiologyNutrition, Genetics, and Disease

Cited by 191

Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups

Waters, K. M., Stram, D. O., Hassanein, M. T., Le Marchand, L., Wilkens, L. R., Maskarinec, G., Monroe, K. R., Kolonel, L. N., Altshuler, D., Henderson, B. E., et al. (2010) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 191

IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins

Dai, N., Zhao, L., Wrighting, D., Krämer, D., Majithia, A., Wang, Y., Cracan, V., Borges-Rivera, D., Mootha, V. K., Nahrendorf, M., et al. (2015) · Cell Metabolism

Adipose Tissue and MetabolismMetabolism, Diabetes, and Cancer

Cited by 188

Once and Again—Issues Surrounding Replication in Genetic Association Studies

Hirschhorn, J. N., & Altshuler, D. (2002) · The Journal of Clinical Endocrinology & Metabolism

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 181

Guilt beyond a reasonable doubt

Altshuler, D., & Daly, M. (2007) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 151

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

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 136

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

Raychaudhuri, S., Korn, J. M., McCarroll, S. A., The International Schizophrenia Consortium, Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 131