| Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 10592 | 2016 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8912 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8535 | 2012 |
| MutationTaster2: mutation prediction for the deep-sequencing age JM Schwarz, DN Cooper, M Schuelke, D Seelow Nature methods 11 (4), 361-362, 2014 | 3748 | 2014 |
| Genome sequence of the Brown Norway rat yields insights into mammalian evolution University of Utah Weiss Robert B. 14 Dunn Diane M. 14, ... Nature 428 (6982), 493-521, 2004 | 2565 | 2004 |
| Human Gene Mutation Database (HGMD®): 2003 update PD Stenson, EV Ball, M Mort, AD Phillips, JA Shiel, NST Thomas, ... Human mutation 21 (6), 577-581, 2003 | 2180 | 2003 |
| Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial RECOVERY Collaborative Group Lancet (London, England) 397 (10285), 1637, 2021 | 2087* | 2021 |
| A massive phytoplankton bloom induced by an ecosystem-scale iron fertilization experiment in the equatorial Pacific Ocean KH Coale, KS Johnson, SE Fitzwater, RM Gordon, S Tanner, FP Chavez, ... Nature 383 (6600), 495-501, 1996 | 1898 | 1996 |
| The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences M Krawczak, J Reiss, DN Cooper Human genetics 90, 41-54, 1992 | 1667 | 1992 |
| The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies PD Stenson, M Mort, EV Ball, K Evans, M Hayden, S Heywood, M Hussain, ... Human genetics 136, 665-677, 2017 | 1526 | 2017 |
| The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine PD Stenson, M Mort, EV Ball, K Shaw, AD Phillips, DN Cooper Human genetics 133, 1-9, 2014 | 1516 | 2014 |
| Evolutionary and biomedical insights from the rhesus macaque genome RA Gibbs, J Rogers, MG Katze, R Bumgarner, GM Weinstock, ER Mardis, ... science 316 (5822), 222-234, 2007 | 1516 | 2007 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1415 | 2012 |
| Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models HA Shihab, J Gough, DN Cooper, PD Stenson, GLA Barker, KJ Edwards, ... Human mutation 34 (1), 57-65, 2013 | 1381 | 2013 |
| The human gene mutation database: 2008 update PD Stenson, M Mort, EV Ball, K Howells, AD Phillips, NST Thomas, ... Genome medicine 1, 1-6, 2009 | 1332* | 2009 |
| The CpG dinucleotide and human genetic disease DN Cooper, H Youssoufian Human genetics 78, 151-155, 1988 | 1211 | 1988 |
| Use of nucleoside reverse transcriptase inhibitors and risk of myocardial infarction in HIV-infected patients enrolled in the D: A: D study: a multi-cohort collaboration D: A: D Study Group The Lancet 371 (9622), 1417-1426, 2008 | 1191 | 2008 |
| The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, ... Human genetics 139, 1197-1207, 2020 | 966 | 2020 |
| Automated inference of molecular mechanisms of disease from amino acid substitutions B Li, VG Krishnan, ME Mort, F Xin, KK Kamati, DN Cooper, SD Mooney, ... Bioinformatics 25 (21), 2744-2750, 2009 | 933 | 2009 |
| The yak genome and adaptation to life at high altitude Q Qiu, G Zhang, T Ma, W Qian, J Wang, Z Ye, C Cao, Q Hu, J Kim, ... Nature genetics 44 (8), 946-949, 2012 | 928 | 2012 |
