| 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 | 947 | 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 | 867 | 2021 |
| Uberon, an integrative multi-species anatomy ontology CJ Mungall, C Torniai, GV Gkoutos, SE Lewis, MA Haendel Genome biology 13, 1-20, 2012 | 796 | 2012 |
| 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 | 742 | 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 | 655 | 2017 |
| Development of a definition of postacute sequelae of SARS-CoV-2 infection T Thaweethai, SE Jolley, EW Karlson, EB Levitan, B Levy, GA McComsey, ... Jama 329 (22), 1934-1946, 2023 | 584 | 2023 |
| 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 | 534 | 2021 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 524 | 2015 |
| The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment MA Haendel, CG Chute, TD Bennett, DA Eichmann, J Guinney, WA Kibbe, ... Journal of the American Medical Informatics Association 28 (3), 427-443, 2021 | 499 | 2021 |
| How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 439 | 2020 |
| The ontology for biomedical investigations A Bandrowski, R Brinkman, M Brochhausen, MH Brush, B Bug, ... PloS one 11 (4), e0154556, 2016 | 411 | 2016 |
| 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 | 394 | 2014 |
| Next-generation diagnostics and disease-gene discovery with the Exomiser D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ... Nature protocols 10 (12), 2004-2015, 2015 | 392 | 2015 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 372 | 2017 |
| OBO-Edit—an ontology editor for biologists J Day-Richter, MA Harris, M Haendel, ... Bioinformatics 23 (16), 2198-2200, 2007 | 372 | 2007 |
| DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system K Yamakawa, YK Huo, MA Haendel, R Hubert, XN Chen, GE Lyons, ... Human molecular genetics 7 (2), 227-237, 1998 | 360 | 1998 |
| Classification, ontology, and precision medicine MA Haendel, CG Chute, PN Robinson New England Journal of Medicine 379 (15), 1452-1462, 2018 | 344 | 2018 |
| The Zebrafish Information Network: the zebrafish model organism database J Sprague, L Bayraktaroglu, D Clements, T Conlin, D Fashena, K Frazer, ... Nucleic acids research 34 (suppl_1), D581-D585, 2006 | 333 | 2006 |
| Linking human diseases to animal models using ontology-based phenotype annotation NL Washington, MA Haendel, CJ Mungall, M Ashburner, M Westerfield, ... PLoS biology 7 (11), e1000247, 2009 | 322 | 2009 |
| A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ... The American Journal of Human Genetics 99 (3), 595-606, 2016 | 320 | 2016 |
Christopher J MungallLawrence Berkeley National LaboratoryZweryfikowany adres z lbl.gov