Jacobsen, Julius O B

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

Next-generation diagnostics and disease-gene discovery with the Exomiser

Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 445

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 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

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

Reese, J. T., Chimirri, L., Bridges, Y., Danis, D., Caufield, J. H., Gargano, M. A., Kroll, C., Schmeder, A., Liu, F., Wissink, K., et al. (2024) · medRxiv

Artificial Intelligence in Healthcare and EducationGenomics and Rare Diseases

Cited by 8