Thaxton, Courtney

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

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International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

James, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., et al. (2021) · Circulation: Genomic and Precision Medicine

Cardiovascular Effects of ExerciseCardiomyopathy and Myosin Studies

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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

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