Rare Diseases

Displaying 1 - 4 of 4CSV
Wojcik, M. H., Lemire, G., Berger, E., Zaki, M. S., Wissmann, M., Win, W., White, S. M., Weisburd, B., Wieczorek, D., Waddell, L. B., Verboon, J. M., VanNoy, G. E., Töpf, A., Tan, T. Y., Syrbe, S., Strehlow, V., Straub, V., Stenton, S. L., Snow, H., … O’Donnell-Luria, A. (2024). Genome Sequencing for Diagnosing Rare Diseases. New England Journal of Medicine, 390(21), 1985–1997. https://doi.org/10.1056/nejmoa2314761
Publication Date
Padgett, L. R., Shinkle, M. R., Rosario, S., Stewart, T. M., Foley, J. R., Casero, R. A., Park, M. H., Chung, W. K., & Mastracci, T. L. (2023). Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. Human Genetics and Genomics Advances, 4(3), 100206. https://doi.org/10.1016/j.xhgg.2023.100206
Publication Date
Lee, S. S.-J., Caruncho, M., Chung, W. K., Johnston, J., Tabb, K., & Appelbaum, P. S. (2023). Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genetics in Medicine, 25(6), 100832. https://doi.org/10.1016/j.gim.2023.100832
Publication Date
Liu, C., Ta, C. N., Havrilla, J. M., Nestor, J. G., Spotnitz, M. E., Geneslaw, A. S., Hu, Y., Chung, W. K., Wang, K., & Weng, C. (2022). OARD: Open annotations for rare diseases and their phenotypes based on real-world data. The American Journal of Human Genetics, 109(9), 1591–1604. https://doi.org/10.1016/j.ajhg.2022.08.002
Publication Date