| 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 | 912 | 2014 |
| 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 | 802 | 2017 |
| 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 | 793 | 2021 |
| Uberon, an integrative multi-species anatomy ontology CJ Mungall, C Torniai, GV Gkoutos, SE Lewis, MA Haendel Genome biology 13, 1-20, 2012 | 723 | 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 | 670 | 2019 |
| 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 | 488 | 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 | 402 | 2021 |
| OBO-Edit—an ontology editor for biologists J Day-Richter, MA Harris, M Haendel, ... Bioinformatics 23 (16), 2198-2200, 2007 | 369 | 2007 |
| 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 | 366 | 2021 |
| 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 | 366 | 2014 |
| The ontology for biomedical investigations A Bandrowski, R Brinkman, M Brochhausen, MH Brush, B Bug, ... PloS one 11 (4), e0154556, 2016 | 363 | 2016 |
| 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 | 346 | 2015 |
| 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 | 346 | 1998 |
| 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 | 323 | 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 | 314 | 2009 |
| Integrating phenotype ontologies across multiple species CJ Mungall, GV Gkoutos, CL Smith, MA Haendel, SE Lewis, M Ashburner Genome biology 11, 1-16, 2010 | 308 | 2010 |
| 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 | 305 | 2020 |
| The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species CJ Mungall, JA McMurry, S Köhler, JP Balhoff, C Borromeo, M Brush, ... Nucleic acids research 45 (D1), D712-D722, 2017 | 300 | 2017 |
| Classification, ontology, and precision medicine MA Haendel, CG Chute, PN Robinson New England Journal of Medicine 379 (15), 1452-1462, 2018 | 296 | 2018 |
| Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014 | 279 | 2014 |
Christopher J MungallLawrence Berkeley National LaboratoryEmail được xác minh tại lbl.gov
