| 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 | 826 | 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 | 726 | 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 | 650 | 2017 |
| 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 | 407 | 2020 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 368 | 2017 |
| 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 | 313 | 2017 |
| The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability AD Diehl, TF Meehan, YM Bradford, MH Brush, WM Dahdul, DS Dougall, ... Journal of biomedical semantics 7, 1-10, 2016 | 280 | 2016 |
| On the reproducibility of science: unique identification of research resources in the biomedical literature NA Vasilevsky, MH Brush, H Paddock, L Ponting, SJ Tripathy, ... PeerJ 1, e148, 2013 | 276 | 2013 |
| The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020 | 236 | 2020 |
| The human phenotype ontology: semantic unification of common and rare disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015 | 233 | 2015 |
| Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021 | 193 | 2021 |
| The Resource Identification Initiative: A cultural shift in publishing A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ... Neuroinformatics 14, 169-182, 2016 | 187 | 2016 |
| OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies R Jackson, N Matentzoglu, JA Overton, R Vita, JP Balhoff, PL Buttigieg, ... Database 2021, baab069, 2021 | 175 | 2021 |
| Reproducible and reusable research: are journal data sharing policies meeting the mark? NA Vasilevsky, J Minnier, MA Haendel, RE Champieux PeerJ 5, e3208, 2017 | 139 | 2017 |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 110 | 2016 |
| Dealing with data: A case study on information and data management literacy MA Haendel, NA Vasilevsky, JA Wirz PLoS biology 10 (5), e1001339, 2012 | 91 | 2012 |
| The GA4GH Phenopacket schema defines a computable representation of clinical data JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... Nature biotechnology 40 (6), 817-820, 2022 | 82 | 2022 |
| Mondo: Unifying diseases for the world, by the world NA Vasilevsky, NA Matentzoglu, S Toro, JE Flack IV, H Hegde, DR Unni, ... MedRxiv, 2022.04. 13.22273750, 2022 | 76 | 2022 |
| Navigating the phenotype frontier: the monarch initiative JA McMurry, S Köhler, NL Washington, JP Balhoff, C Borromeo, M Brush, ... Genetics 203 (4), 1491-1495, 2016 | 74 | 2016 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 71 | 2024 |
Melissa HaendelUniversity of North Carolina在 tislab.org 的电子邮件经过验证
