| The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource E Sollis, A Mosaku, A Abid, A Buniello, M Cerezo, L Gil, T Groza, O Güneş, ... Nucleic acids research 51 (D1), D977-D985, 2023 | 1023 | 2023 |
| 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 | 741 | 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 | 435 | 2020 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 372 | 2017 |
| 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 | 318 | 2016 |
| 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 | 317 | 2017 |
| 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 | 244 | 2020 |
| The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease T Groza, FL Gomez, HH Mashhadi, V Muñoz-Fuentes, O Gunes, R Wilson, ... Nucleic acids research 51 (D1), D1038-D1045, 2023 | 243 | 2023 |
| 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 | 234 | 2015 |
| 36th international symposium on intensive care and emergency medicine: Brussels, Belgium. 15-18 March 2016 RM Bateman, MD Sharpe, JE Jagger, CG Ellis, J Solé-Violán, ... Critical care 20, 13-182, 2016 | 199 | 2016 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 191 | 2021 |
| The NEPOMUK project-on the way to the social semantic desktop T Groza, S Handschuh, K Moeller | 191 | 2007 |
| SALT-semantically annotated for scientific publications T Groza, S Handschuh, K Möller, S Decker European Semantic Web Conference, 518-532, 2007 | 170 | 2007 |
| A review of argumentation for the social semantic web J Schneider, T Groza, A Passant Semantic Web 4 (2), 159-218, 2013 | 156 | 2013 |
| SemVersion: An RDF-based ontology versioning system M Völkel, T Groza Proceedings of the IADIS international conference WWW/Internet 2006, 44, 2006 | 141 | 2006 |
| CogStack-experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital R Jackson, I Kartoglu, C Stringer, G Gorrell, A Roberts, X Song, H Wu, ... BMC medical informatics and decision making 18, 1-13, 2018 | 128 | 2018 |
| <? 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 | 95 | 2024 |
| Matchmaker exchange NLM Sobreira, H Arachchi, OJ Buske, JX Chong, B Hutton, J Foreman, ... Current protocols in human genetics 95 (1), 9.31. 1-9.31. 15, 2017 | 93 | 2017 |
| 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 | 88 | 2022 |
Siegfried HandschuhChair of Data Science and Natural Language Processing, University of St.GallenVerified email at unisg.ch