Projects per year
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. Our work contributes towards the following SDG(s):
Fingerprint
Dive into the research topics where Pediatric Genetics & Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
-
Susan A Berry, Professor
- Pediatric Genetics & Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliates
-
A Phase III study of JR-141 in Mucopolysaccharidosis type II (Hunter Syndrome) patients
Whitley, C. B. & Miller, B. S.
11/15/22 → 11/16/25
Project: Research project
-
Transcriptomic Approaches to Diagnosis and Management of Inborn Errors of Immunity
Thielen, B. K., Albert, F. W. & Billington, C.
7/1/22 → 6/30/23
Project: Research project
-
TMEM161B modulates radial glial scaffolding in neocortical development
Wang, L., Heffner, C., Vong, K. L., Barrows, C., Ha, Y. J., Lee, S., Lara-Gonzalez, P., Jhamb, I., Van Der Meer, D., Loughnan, R., Parker, N., Sievert, D., Mittal, S., Issa, M. Y., Andreassen, O. A., Dale, A., Dobyns, W. B., Zaki, M. S., Murray, S. A. & Gleeson, J. G., Jan 24 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 4, e2209983120.Research output: Contribution to journal › Article › peer-review
Open Access -
ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development
Subramanian, S., Biswas, A., Alves, C. A. P. F., Sudhakar, S. V., Shekdar, K. V., Krishnan, P., Shroff, M., Taranath, A., Arrigoni, F., Aldinger, K. A., Leventer, R. J., Dobyns, W. B. & Mankad, K., Jan 1 2022, In: American Journal of Neuroradiology. 43, 1, p. 146-150 5 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., & 10 others, Nov 3 2022, In: American Journal of Human Genetics. 109, 11, p. 2068-2079 12 p.Research output: Contribution to journal › Article › peer-review
Open Access
Activities
- 1 Types of Award - Prize (including medals and awards)
-
Doctoral Dissertation Fellowship
Li Ou (Recipient)
Sep 2015 → Aug 2016Activity: Other activity types › Types of Award - Prize (including medals and awards)
Prizes
-
American Society of Gene and Cell Therapy Travel Award
Ou, Li (Recipient), May 2016
Prize: Prize (including medals and awards)
-
Baosteel Fellowship for Excellent Students
Ou, Li (Recipient), 2009
Prize: Prize (including medals and awards)
-
NIH Lysosomal Disease Network Fellow
Ou, Li (Recipient), 2015
Prize: Prize (including medals and awards)