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Office
Medical Center Blvd
Winston Salem, NC 27157Phone+1 336-713-7530
Education & Training
- Baylor College of MedicineResidency, Medical Genetics and Genomics, 2009 - 2014
- Baylor College of MedicineResidency, Pediatrics/Medical Genetics and Genomics, 2009 - 2014
- Medical College of WisconsinClass of 2009
Certifications & Licensure
- NC State Medical License 2019 - 2026
- IL State Medical License 2014 - 2020
- MO State Medical License 2014 - 2020
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 1 citationsOptimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.Angie H Fares, Ankit K Desai, Laura E Case, Cassie Sharon, Amy Klinepeter
Molecular Genetics and Metabolism Reports. 2024-12-01 - 8 citationsPathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson
EMBO Molecular Medicine. 2023-05-08 - 16 citationsHeterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability,speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla
American Journal of Human Genetics. 2021-06-03
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