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Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Long-Term Follow-up of Fabry Disease Subjects who have Undergone IV Infusion with ST-920, an rAAV2/6 Human Alpha Galactosidase A Gene Therapy
Whitley, C. B. (PI), Diethelm-Okita, B. M. (CoI), Jarnes, J. R. (CoI) & Miller, B. S. (CoI)
12/4/23 → 11/30/30
Project: Research project
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An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
Whitley, C. B. (PI), Eisengart, J. (CoI), Jarnes, J. R. (CoI) & Miller, B. S. (CoI)
9/8/20 → 1/1/26
Project: Research project
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Advanced Therapies Rare Genetic Disease Fellowship
Jarnes, J. R. (PI) & Whitley, C. B. (CoI)
7/1/24 → 6/30/25
Project: Research project
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Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jarnes, J. R., Palmer, R. S. & Whitley, C. B., Mar 2025, In: Kidney International Reports. 10, 3, p. S789-S793Research output: Contribution to journal › Article › peer-review
Open Access -
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
Brown, C. G., Bower, M., Schomaker, M., Goldstein, J., Jarnes, J., Whitley, C. B. & Pillai, N. R., Jul 2025, In: American Journal of Medical Genetics, Part A. 197, 7, e64012.Research output: Contribution to journal › Article › peer-review
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Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study
Jarnes, J. R., Pillai, N. R., Ahmed, A., Shrestha, S., Stark, M. & Whitley, C. B., Mar 2025, In: Molecular Genetics and Metabolism Reports. 42, 101179.Research output: Contribution to journal › Article › peer-review
Open Access -
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program
Shrestha, S., Zagel, A. L., Pillai, N. R., Ahmed, A., Jacobson, J., Ranasinghe, A., Whitley, C. B. & Jarnes, J. R., Jun 2025, In: Genetics in Medicine. 27, 6, 101405.Research output: Contribution to journal › Article › peer-review
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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Leslie, A. C., Jarnes, J., Ahmed, A., Shrestha, S., Wang, J., Whitley, C. B. & Pillai, N. R., Jan 2025, In: JIMD Reports. 66, 1, e12466.Research output: Contribution to journal › Article › peer-review
Open Access