Hirschhorn, Joel N.

Biological interpretation of genome-wide association studies using predicted gene functions

Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 787

A common genetic variant is associated with adult and childhood obesity.

Herbert, A., Gerry, N. P., McQueen, M. B., Heid, I. M., Pfeufer, A., Illig, T., Wichmann, H.-E., Meitinger, T., Hunter, D., Hu, F. B., et al. (2006) · Science

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 732

Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events

Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., et al. (2008) · New England Journal of Medicine

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 696

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V. G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., et al. (2008) · Proceedings of the National Academy of Sciences

Hemoglobinopathies and Related DisordersGenetic Associations and Epidemiology

Cited by 672

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, S. I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau-Chonka, D. C., Day, F. R., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 646

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 610

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

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 544

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Abreu, A. P., Dauber, A., Macedo, D. B., Noel, S. D., Brito, V. N., Gill, J. C., Cukier, P., Thompson, I. R., Navarro, V. M., Gagliardi, P. C., et al. (2013) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 534

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

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

Ferreira, M. A., Matheson, M. C., Duffy, D. L., Marks, G. B., Hui, J., Le Souëf, P., Danoy, P., Baltic, S., Nyholt, D. R., Jenkins, M., et al. (2011) · The Lancet

Asthma and respiratory diseasesGenetic Associations and Epidemiology

Cited by 381

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

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank

Tyrrell, J., Jones, S. E., Beaumont, R., Astley, C. M., Lovell, R., Yaghootkar, H., Tuke, M., Ruth, K. S., Freathy, R. M., Hirschhorn, J. N., et al. (2016) · BMJ

Genetic Associations and EpidemiologyIntergenerational and Educational Inequality Studies

Cited by 372

PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease†,‡

Speliotes, E. K., Butler, J. L., Palmer, C. D., Voight, B. F., & Hirschhorn, J. N. (2010) · Hepatology

Liver Disease Diagnosis and TreatmentGenetic Associations and Epidemiology

Cited by 362

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W. K., Hirschhorn, J. N., Daly, M. J., Patterson, N., et al. (2018) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 360

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W., Hirschhorn, J., Daly, M. J., Patterson, N., et al. (2019) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 359

Gene expression analysis identifies global gene dosage sensitivity in cancer

Fehrmann, R. S. N., Karjalainen, J. M., Krajewska, M., Westra, H.-J., Maloney, D., Simeonov, A., Pers, T. H., Hirschhorn, J. N., Jansen, R. C., Schultes, E. A., et al. (2015) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGene expression and cancer classification

Cited by 347

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

Felix, J. F., Bradfield, J. P., Monnereau, C., van der Valk, R. J. P., Stergiakouli, E., Chesi, A., Gaillard, R., Feenstra, B., Thiering, E., Kreiner-Møller, E., et al. (2016) · Human Molecular Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 343

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Kilpeläinen, T. O., Zillikens, M. C., Stančákova, A., Finucane, F. M., Ried, J. S., Langenberg, C., Zhang, W., Beckmann, J. S., Luan, J., Vandenput, L., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 335

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

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

Turchin, M. C., Chiang, C. W., Palmer, C. D., Sankararaman, S., Reich, D., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, & Hirschhorn, J. N. (2012) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 329

Discerning the ancestry of European Americans in genetic association studies

Price, A. L., Butler, J., Patterson, N., Capelli, C., Pascali, V. L., Scarnicci, F., Ruiz-Linares, A., Groop, L., Saetta, A. A., Korkolopoulou, P., et al. (2008) · PLoS Genetics

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 327

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

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313