Projects per year
Fingerprint
Collaborations and top research areas from the last five years
Profiles
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Susan A Berry, Professor
- Pediatric Genetics & Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliates
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A Phase 1, Open-label, Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Recombinant Human Heparan N-Sulfatase (rhHNS, GC1130A) Via Intracerebroventricular Access Device in Patients with
Whitley, C. B. (PI)
2/1/25 → 1/31/35
Project: Research project
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A Phase 1/2, Single Dose, Dose Escalation Study of Intravenous AAV5-GLA (AMT-191) in Adult Males with Classic Fabry Disease
Whitley, C. B. (PI)
1/10/25 → 3/31/35
Project: Research project
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GenoKrabbe: A Comprehensive Genotype-Phenotype Database for Krabbe Disease
Orchard, P. J. (PI), Gupta, A. O. (CoI), Pillai, N. (CoI), Braun, J. A. (Other Role) & Shanley, R. M. (Other Role)
ROSENAU FAMILY RESEARCH FOUNDATION
11/1/24 → 10/31/27
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 -
An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure
Bannister, M., Bray, S., Aggarwal, A., Billington, C. & Nguyen, H. D., Jan 9 2025, In: Human Genetics and Genomics Advances. 6, 1, 100386.Research output: Contribution to journal › Article › peer-review
Open Access -
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
University of Washington Center for Mendelian Genomics (UW-CMG), C4RCD Research Group & Telethon Undiagnosed Disease Program (TUDP), Mar 2025, In: European Journal of Human Genetics. 33, 3, p. 312-324 13 p., 103969.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations
Activities
- 1 Types of Award - Prize (including medals and awards)
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Doctoral Dissertation Fellowship
Ou, L. (Recipient)
Sep 2015 → Aug 2016Activity: Other activity types › Types of Award - Prize (including medals and awards)
Prizes
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American Society of Gene and Cell Therapy Travel Award
Ou, L. (Recipient), May 2016
Prize: Prize (including medals and awards)
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Baosteel Fellowship for Excellent Students
Ou, L. (Recipient), 2009
Prize: Prize (including medals and awards)
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NIH Lysosomal Disease Network Fellow
Ou, L. (Recipient), 2015
Prize: Prize (including medals and awards)