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| 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 | 976 | 2009 |
| BioMart–biological queries made easy D Smedley, S Haider, B Ballester, R Holland, D London, G Thorisson, ... BMC genomics 10, 1-12, 2009 | 971 | 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 | 916 | 2014 |
| 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 | 830 | 2021 |
| 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 | 804 | 2015 |
| 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 | 801 | 2017 |
| 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 | 725 | 2020 |
| 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 | 681 | 2019 |
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| 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 | 417 | 2009 |
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| 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 | 388 | 2021 |
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