Groza, Tudor

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research

Genetic Associations and EpidemiologyResearch Data Management Practices

Cited by 1,641

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 677

How many rare diseases are there?

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., et al. (2020) · Nature Reviews Drug Discovery

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

Mungall, C. J., McMurry, J. A., Köhler, S., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., et al. (2017) · Nucleic Acids Research

Biomedical Text Mining and OntologiesBioinformatics and Genomic Networks

Cited by 441

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Groza, T., Gomez, F. L., Mashhadi, H. H., Muñoz-Fuentes, V., Gunes, O., Wilson, R., Cacheiro, P., Frost, A., Keskivali-Bond, P., Vardal, B., et al. (2023) · Nucleic Acids Research

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 413

The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 410

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 283

CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital

Jackson, R., Kartoglu, I., Stringer, C., Gorrell, G., Roberts, A., Song, X., Wu, H., Agrawal, A., Lui, K., Groza, T., et al. (2018) · BMC Medical Informatics and Decision Making

Electronic Health Records SystemsBiomedical Text Mining and Ontologies

Cited by 134

Mondo: Unifying diseases for the world, by the world

Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., et al. (2022) · medRxiv

Biomedical Text Mining and OntologiesSemantic Web and Ontologies

Cited by 107

Identifying scientific artefacts in biomedical literature: The Evidence Based Medicine use case.

Hassanzadeh, H., Groza, T., & Hunter, J. (2014) · Journal of Biomedical Informatics

Biomedical Text Mining and OntologiesAdvanced Text Analysis Techniques

Cited by 62