Projects per year
Personal profile
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):
Fingerprint
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.
- 1 Similar Profiles
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
Projects
- 1 Active
-
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
Aggarwal, A. (PI)
ULTRAGENYX PHARMACEUTICAL INC.
8/3/21 → 8/31/26
Project: Research project
-
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 -
Successful Simultaneous Heart-Kidney Transplant in a Patient With MT-TL1 MELAS Cardiomyopathy
Arriola Montenegro, J. J., Mutschler, M., Cogswell, R. J., Alexy, T., John, R., Voeller, R., Humphreville, V., Aggarwal, A. & Maharaj, V. R., Sep 18 2024, In: JACC: Case Reports. 29, 18, 102523.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Dailey, C., Oshodi, R. B., Boull, C. & Aggarwal, A., Nov 2022, In: European Journal of Medical Genetics. 65, 11, 104607.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations -
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
Priestley, J. R. C., Pace, L. M., Sen, K., Aggarwal, A., Alves, C. A. P. F., Campbell, I. M., Cuddapah, S. R., Engelhardt, N. M., Eskandar, M., García, P. C. J., Gropman, A., Helbig, I., Hong, X., Gowda, V. K., Lusk, L., Trapane, P., Srinivasan, V. M., Suwannarat, P. & Ganetzky, R. D., Dec 2022, In: Molecular Genetics and Metabolism Reports.Research output: Contribution to journal › Article › peer-review
11 Scopus citations -
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features
Pillai, N. R., Miller, D., Bronken, G., Salunke, A. K. & Aggarwal, A., Jul 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2231-2236 6 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations