| Ensembl 2007 TJP Hubbard, BL Aken, K Beal, B Ballester, M Cáccamo, Y Chen, ... Nucleic acids research 35 (suppl_1), D610-D617, 2007 | 1557 | 2007 |
| BioMart–biological queries made easy D Smedley, S Haider, B Ballester, R Holland, D London, G Thorisson, ... BMC genomics 10, 1-12, 2009 | 976 | 2009 |
| Ensembl 2009 TJP Hubbard, BL Aken, S Ayling, B Ballester, K Beal, E Bragin, S Brent, ... Nucleic acids research 37 (suppl_1), D690-D697, 2009 | 953 | 2009 |
| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 914 | 2014 |
| The BioMart community portal: an innovative alternative to large, centralized data repositories D Smedley, S Haider, S Durinck, L Pandini, P Provero, J Allen, O Arnaiz, ... Nucleic acids research 43 (W1), W589-W598, 2015 | 809 | 2015 |
| Mutational signature in colorectal cancer caused by genotoxic pks+E. coli C Pleguezuelos-Manzano, J Puschhof, A Rosendahl Huber, A van Hoeck, ... Nature 580 (7802), 269-273, 2020 | 738 | 2020 |
| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 731 | 2021 |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 686 | 2019 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 622 | 2017 |
| Ensembl 2008 P Flicek, BL Aken, K Beal, B Ballester, M Cáccamo, Y Chen, L Clarke, ... Nucleic acids research 36 (suppl_1), D707-D714, 2007 | 622 | 2007 |
| An overview of Ensembl E Birney, TD Andrews, P Bevan, M Caccamo, Y Chen, L Clarke, G Coates, ... Genome research 14 (5), 925-928, 2004 | 563 | 2004 |
| Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes JK White, AK Gerdin, NA Karp, E Ryder, M Buljan, JN Bussell, J Salisbury, ... Cell 154 (2), 452-464, 2013 | 529 | 2013 |
| EnsMart: a generic system for fast and flexible access to biological data A Kasprzyk, D Keefe, D Smedley, D London, W Spooner, C Melsopp, ... Genome research 14 (1), 160-169, 2004 | 505 | 2004 |
| Ensembl 2006 E Birney, D Andrews, M Cáccamo, Y Chen, L Clarke, G Coates, T Cox, ... Nucleic acids research 34 (suppl_1), D556-D561, 2006 | 488 | 2006 |
| The 100 000 Genomes Project: bringing whole genome sequencing to the NHS C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ... Bmj 361, 2018 | 422 | 2018 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 415 | 2020 |
| BioMart Central Portal—unified access to biological data S Haider, B Ballester, D Smedley, J Zhang, P Rice, A Kasprzyk Nucleic acids research 37 (suppl_2), W23-W27, 2009 | 414 | 2009 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 399 | 2021 |
| A genomewide scan for loci predisposing to type 2 diabetes in a UK population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication … S Wiltshire, AT Hattersley, GA Hitman, M Walker, JC Levy, M Sampson, ... The American Journal of Human Genetics 69 (3), 553-569, 2001 | 374 | 2001 |
| Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014 | 373 | 2014 |
