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Tudor Groza
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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
8742023
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
7222019
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
6462017
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
4012020
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
3682017
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
3122017
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
3102016
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
2342020
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
2322015
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
2132023
The NEPOMUK project-on the way to the social semantic desktop
T Groza, S Handschuh, K Moeller
1912007
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
1902016
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
1802021
SALT-semantically annotated for scientific publications
T Groza, S Handschuh, K Möller, S Decker
European Semantic Web Conference, 518-532, 2007
1702007
A review of argumentation for the social semantic web
J Schneider, T Groza, A Passant
Semantic Web 4 (2), 159-218, 2013
1552013
SemVersion: An RDF-based ontology versioning system
M Völkel, T Groza
Proceedings of the IADIS international conference WWW/Internet 2006, 44, 2006
1402006
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
1242018
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
922017
Automatic concept recognition using the human phenotype ontology reference and test suite corpora
T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ...
Database 2015, bav005, 2015
852015
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
792022
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