Gamazon, Eric R.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 5,547

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 5,062

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., & Cox, N. J. (2010) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,292

Obesity-associated variants within FTO form long-range functional connections with IRX3

Smemo, S., Tena, J. J., Kim, K.-H., Gamazon, E. R., Sakabe, N. J., Gómez-Marín, C., Aneas, I., Credidio, F. L., Sobreira, D. R., Wasserman, N. F., et al. (2014) · Nature

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 1,219

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Mapping the proteo-genomic convergence of human diseases

Pietzner, M., Wheeler, E., Carrasco-Zanini, J., Cortes, A., Koprulu, M., Wörheide, M. A., Oerton, E., Cook, J., Stewart, I. D., Kerrison, N. D., et al. (2021) · Science

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 657

Determinants of telomere length across human tissues

Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science

Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Cited by 515

A Quantitative Proteome Map of the Human Body

Jiang, L., Wang, M., Lin, S., Jian, R., Li, X., Chan, J., Dong, G., Fang, H., Robinson, A. E., Aguet, F., et al. (2020) · Cell

Advanced Proteomics Techniques and ApplicationsBioinformatics and Genomic Networks

Cited by 458

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

GTEx Consortium, Gamazon, E. R., Segrè, A. V., van de Bunt, M., Wen, X., Xi, H. S., Hormozdiari, F., Ongen, H., Konkashbaev, A., Derks, E. M., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 412

Genome-wide association study of obsessive-compulsive disorder

Stewart, S. E., Yu, D., Scharf, J. M., Neale, B. M., Fagerness, J. A., Mathews, C. A., Arnold, P. D., Evans, P. D., Gamazon, E. R., Osiecki, L., et al. (2013) · Molecular Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 384

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

The Genotype-Tissue Expression (GTEx) project

Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 263

Population differences in microRNA expression and biological implications

Huang, R. S., Gamazon, E. R., Ziliak, D., Wen, Y., Im, H. K., Zhang, W., Wing, C., Duan, S., Bleibel, W. K., Cox, N. J., et al. (2011) · RNA Biology

MicroRNA in disease regulationGenetic Associations and Epidemiology

Cited by 171

A deep catalogue of protein-coding variation in 983,578 individuals

Sun, K. Y., Bai, X., Chen, S., Bao, S., Zhang, C., Kapoor, M., Backman, J., Joseph, T., Maxwell, E., Mitra, G., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 127

On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy

Im, H. K., Gamazon, E. R., Nicolae, D. L., & Cox, N. J. (2012) · The American Journal of Human Genetics

Privacy-Preserving Technologies in DataGenetic Associations and Epidemiology

Cited by 103

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 69

Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences

Colbran, L. L., Gamazon, E. R., Zhou, D., Evans, P., Cox, N. J., & Capra, J. A. (2019) · Nature Ecology & Evolution

Pleistocene-Era Hominins and ArchaeologyGenetic Associations and Epidemiology

Cited by 50

Linking the genetic architecture of cytosine modifications with human complex traits

Zhang, X., Moen, E. L., Liu, C., Mu, W., Gamazon, E. R., Delaney, S. M., Wing, C., Godley, L. A., Dolan, M. E., & Zhang, W. (2014) · Human Molecular Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 41

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

Davis, L. K., Gamazon, E. R., Kistner-Griffin, E., Badner, J. A., Liu, C., Cook, E. H., Sutcliffe, J. S., & Cox, N. J. (2012) · Molecular Autism

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 40

Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import

Khan, A., Unlu, G., Lin, P., Liu, Y., Kilic, E., Kenny, T. C., Birsoy, K., & Gamazon, E. R. (2024) · Nature Genetics

Genetic Associations and EpidemiologyMetabolism and Genetic Disorders

Cited by 29