Advocacy
- Principles for interactions with biopharmaceutical companies: The development of guidelines for patient advocacy organizations in the field of rare diseases
- Stein, S., Bogard, E., Boice, N., Fernandez, V., Field, T., Gilstrap, A., Kahn, S. R., Larkindale, J., & Mathieson, T. (2018). Orphanet Journal of Rare Diseases, 13(1), 18. https://doi.org/10.1186/s13023-018-0761-2
Research
- RARE-X: A patient-driven approach for collecting symptom and patient-reported outcome data in rare diseases
- Vogel-Farley, V., Trzupek, K., Gosar, J., Hobbs, K., Wentworth, K., Michaels, B., Beek, G., Dang, T., Abramson, M., O’Boyle, M., Boice, N., Son Rigby, C., & Talebizadeh, Z. (2025). Genetics in Medicine, 28(2), 101634. https://doi.org/10.1016/j.gim.2025.101634
- Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership
- Trzupek, K., Bhargava, R., Kuan, C., Sie, F., Vogel-Farley, V., Hobbs, K., Chung, V., Diaz, M., Son-Rigby, C., Geraci, J., & Albrecht, J. (2025). HGG Advances, 6(3), 100462. https://doi.org/10.1016/j.xhgg.2025.100462
- Patient-reported outcome measures in central disorders of hypersomnolence: consensus of a sleep consortium/RARE-X expert working group
- Trzupek, K., Wylds-Wright, C., Kuan, C., Sleep Consortium Expert Working Group, Jesteadt, L. (2026). SLEEP Advances, 7(1), 100462. https://doi.org/10.1093/sleepadvances/zpag021
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model
- Dental complications in homocystinurias
- Chapman, K. A., Bartke, D., Vogel-Farley, V., Cobb, M., & Chapman, M. (2023). Molecular Genetics and Metabolism Reports, 36, 100999. https://doi.org/10.1016/j.ymgmr.2023.100999
Posters
- Do Medical Databases Tell the Whole Story? Comparing Clinical and Patient-Reported Symptoms in Rare Neurodevelopmental Disorders
- Thotapalli, D., Talebizadeh, Z., Bittel, D. Kansas City University Research Symposium 2025
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- Uncovering Shared and Distinct Seizure Phenotypes in Rare Diseases Using RARE-X PRO Data
- Talebizadeh, Z., Farnum, A., Son Rigby, C. American Epilepsy Society Annual Meeting 2025
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- Outcomes of an expert working group in Pompe Disease: Efforts towards building a responsible online research platform
