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Office
600 S Paulina St.
Chicago, IL 60607- Is this information wrong?
Education & Training
Rush Medical College of Rush University Medical CenterClass of 2024
Davidson CollegeBS, Genomics, 2017
Publications & Presentations
PubMed
- 17 citationsBi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial DysmorphismJoshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John Douglas Burke, Matthew R. Herzog
American Journal of Human Genetics. 2018-12-06 - 435 citationsSomatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins
The New England Journal of Medicine. 2020-10-27 - 3 citationsBiallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Thomas Johnstone, Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang
Molecular Genetics and Metabolism. 2020-09-01
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