McMurry, Julie A

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 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

Characterizing long COVID: deep phenotype of a complex condition

Deer, R. R., Rock, M. A., Vasilevsky, N., Carmody, L., Rando, H., Anzalone, A. J., Basson, M. D., Bennett, T. D., Bergquist, T., Boudreau, E. A., et al. (2021) · EBioMedicine

Long-Term Effects of COVID-19Biomedical Text Mining and Ontologies

Cited by 200

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Variant Interpretation for Cancer Consortium, Wagner, A. H., Walsh, B., Mayfield, G., Tamborero, D., Sonkin, D., Krysiak, K., Deu-Pons, J., Duren, R. P., Gao, J., et al. (2020) · Nature Genetics

Genomics and Rare DiseasesCancer Genomics and Diagnostics

Cited by 164

Prediction of immunogenicity: in silico paradigms, ex vivo and in vivo correlates

DEGROOT, A., MCMURRY, J., & MOISE, L. (2008) · Current Opinion in Pharmacology

vaccines and immunoinformatics approachesBiosimilars and Bioanalytical Methods

Cited by 109

A Census of Disease Ontologies

Haendel, M. A., McMurry, J. A., Relevo, R., Mungall, C. J., Robinson, P. N., & Chute, C. G. (2018) · Annual Review of Biomedical Data Science

Biomedical Text Mining and OntologiesSemantic Web and Ontologies

Cited by 49

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