Pediatric Genetics & Metabolism

Websitehttps://med.umn.edu/pediatrics/divisions/genetics-and-metabolism

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Anjali Aggarwal
- aggar135@umn.edu
- Pediatric Genetics & Metabolism - Assistant Professor
Person: Faculty
20142021
Susan A Berry, Professor
- berry002@umn.edu
- Pediatric Genetics & Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliates
19772021
Charles Billington, Jr
- billi020@umn.edu
- Pediatric Genetics & Metabolism - Assistant Professor
Person: Faculty
20062021

16 Active
87 Finished

An open-label, multinational, multicenter, intravenous infusion study of the efficacy, safety, pharmacokinetics and pharmacodynamics of avalglucosidase alfa in treatment-naive
Berry, S. A.
SANOFI-AVENTIS US
3/31/21 → 12/31/23
Project: Research project
A Long-term, Open-label Study to Evaluate the Safety,Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age with Fabry Disease and Amenable GLA Variants
Whitley, C. B.
Amicus Therapeutics
1/6/21 → 1/5/27
Project: Research project
Brain connectome as a novel biomarker of Krabbe disease
Ou, L.
LEGACY OF ANGELS
10/15/20 → 10/14/21
Project: Research project

486 Article
32 Review article
13 Comment/debate
13 Letter
More

A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, Haldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., Jan 7 2021, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.
Research output: Contribution to journal › Review article › peer-review
6 Scopus citations
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I
Lund, T. C., Doherty, T. M., Eisengart, J. B., Freese, R. L., Rudser, K. D., Fung, E. B., Miller, B. S., White, K. K., Orchard, P. J., Whitley, C. B. & Polgreen, L. E., Mar 1 2021, In: JIMD Reports. 58, 1, p. 89-99 11 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course
Pillai, N. R., Miller, D., Pierpont, E. I., Berry, S. A. & Aggarwal, A., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1870-1874 5 p.
Research output: Contribution to journal › Article › peer-review

1 Types of Award - Prize (including medals and awards)

Doctoral Dissertation Fellowship
Li Ou (Recipient)
Sep 2015 → Aug 2016
Activity: Other activity types › Types of Award - Prize (including medals and awards)

American Society of Gene and Cell Therapy Travel Award
Ou, L. (Recipient), May 2016
Prize: Prize (including medals and awards)
Baosteel Fellowship for Excellent Students
Ou, L. (Recipient), 2009
Prize: Prize (including medals and awards)
NIH Lysosomal Disease Network Fellow
Ou, L. (Recipient), 2015
Prize: Prize (including medals and awards)