Undergraduate |
Georgia Institute of Technology |
|
2001 |
BS, Computer Science |
Graduate |
Georgia Institute of Technology |
|
2003 |
MS, Computer Science |
Graduate |
Georgia Institute of Technology |
|
2007 |
PhD, Computer Science |
|
Appointment Type |
Department |
Division |
Rank |
Primary |
Med - General Internal Medicine |
GIM-Precision Medicine |
Professor |
Center |
Civitan International Research Center |
Civitan International Research Center |
Professor |
Center |
Comprehensive Diabetes Center |
Comprehensive Diabetes Center |
Professor |
Center |
Ctr for Clinical & Translational Sci |
Ctr for Clinical & Translational Sci |
Professor |
Center |
Informatics Institute |
Informatics Institute |
Professor |
|
Publication |
PUBMEDID |
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006. |
28157539 |
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.Bioorg Med Chem Lett. 2017 Jul 1;27(13):2962-2966. doi: 10.1016/j.bmcl.2017.05.010. Epub 2017 May 5. |
28512024 |
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches. Hum Mol Genet. 2018 Mar 15;27(6):1055-1066. doi: 10.1093/hmg/ddy026. |
29346549 |
A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy. Epilepsia. 2018 Apr;59(4):802-813. doi: 10.1111/epi.14037. Epub 2018 Mar 25. |
29574705 |
Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. |
29632381 |
|
|