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Office
1204 W Main St
Charlottesville, VA 22903Phone+1 434-924-0123Fax+1 434-243-3300
Education & Training
- University of North Carolina HospitalsFellowship, Medical Genetics and Genomics, 1977 - 1979
- University of North Carolina HospitalsResidency, Pediatrics, 1975 - 1977
- University of Virginia Medical CenterInternship, Pediatrics, 1974 - 1975
- University of North Carolina at Chapel Hill School of MedicineClass of 1974
Certifications & Licensure
- VA State Medical License 1979 - 2026
- NC State Medical License 1974 - 2023
- WV State Medical License 1982 - 2017
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Publications & Presentations
PubMed
- 1 citationsOphthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.Omar Elghawy, Alice Y. Zhang, Ryan Duong, William G. Wilson, Eugene Y. Shildkrot
Case Reports in Ophthalmological Medicine. 2021-10-09 - 14 citationsBDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, Theresa Penger, Bettina Behring
The Journal of Clinical Endocrinology and Metabolism. 2021-08-12 - 8 citationsPathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, Amy L Schneider, Jennifer Rakotomamonjy
Annals of Neurology. 2021-08-01
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