| Finding the missing heritability of complex diseases TA Manolio, FS Collins, NJ Cox, DB Goldstein, LA Hindorff, DJ Hunter, ... Nature 461 (7265), 747-753, 2009 | 9710 | 2009 |
| The genotype-tissue expression (GTEx) project J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ... Nature genetics 45 (6), 580-585, 2013 | 7525 | 2013 |
| The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ... Science 348 (6235), 648-660, 2015 | 4545 | 2015 |
| Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3323 | 2017 |
| The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020 | 2460 | 2020 |
| Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3) K Yamagata, N Oda, PJ Kaisaki, S Menzel, H Furuta, M Vaxillaire, ... Nature 384 (6608), 455-458, 1996 | 2228 | 1996 |
| Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus Y Horikawa, N Oda, NJ Cox, X Li, M Orho-Melander, M Hara, Y Hinokio, ... Nature genetics 26 (2), 163-175, 2000 | 1962 | 2000 |
| A gene-based association method for mapping traits using reference transcriptome data ER Gamazon, HE Wheeler, KP Shah, SV Mozaffari, K Aquino-Michaels, ... Nature genetics 47 (9), 1091-1098, 2015 | 1571 | 2015 |
| Association of attention-deficit disorder and the dopamine transporter gene. EH Cook Jr, MA Stein, MD Krasowski, NJ Cox, DM Olkon, JE Kieffer, ... American journal of human genetics 56 (4), 993, 1995 | 1523 | 1995 |
| pRRophetic: an R package for prediction of clinical chemotherapeutic response from tumor gene expression levels P Geeleher, N Cox, RS Huang PloS one 9 (9), e107468, 2014 | 1497 | 2014 |
| Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS DL Nicolae, E Gamazon, W Zhang, S Duan, ME Dolan, NJ Cox PLoS genetics 6 (4), e1000888, 2010 | 1475 | 2010 |
| Obesity-associated variants within FTO form long-range functional connections with IRX3 S Smemo, JJ Tena, KH Kim, ER Gamazon, NJ Sakabe, C Gómez-Marín, ... Nature 507 (7492), 371-375, 2014 | 1390 | 2014 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1385 | 2014 |
| The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1239 | 2016 |
| Germline BAP1 mutations predispose to malignant mesothelioma JR Testa, M Cheung, J Pei, JE Below, Y Tan, E Sementino, NJ Cox, ... Nature genetics 43 (10), 1022-1025, 2011 | 1165 | 2011 |
| Allele-sharing models: LOD scores and accurate linkage tests A Kong, NJ Cox The American Journal of Human Genetics 61 (5), 1179-1188, 1997 | 1121 | 1997 |
| The allelic architecture of human disease genes: common disease–common variant… or not? JK Pritchard, NJ Cox Human molecular genetics 11 (20), 2417-2423, 2002 | 904 | 2002 |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium Nature genetics 46 (3), 234-244, 2014 | 898 | 2014 |
| Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics AN Barbeira, SP Dickinson, R Bonazzola, J Zheng, HE Wheeler, ... Nature communications 9 (1), 1825, 2018 | 842 | 2018 |
| A genome–wide search for human non–insulin–dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 CL Hanis, E Boerwinkle, R Chakraborty, DL Ellsworth, P Concannon, ... Nature genetics 13 (2), 161-166, 1996 | 826 | 1996 |
