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Office
411 E Chestnut St Level 2
Norton Children's Genetics Center
Louisville, KY 40202
Education & Training
- Nationwide Children's Hospital/Ohio State UniversityResidency, Medical Genetics and Genomics, 2015 - 2017
- University of Mississippi Medical CenterResidency, Child Neurology, 2012 - 2015
- University of Mississippi Medical CenterResidency, Pediatrics, 2010 - 2012
- University of Kentucky College of MedicineClass of 2010
Certifications & Licensure
- KY State Medical License 2022 - 2025
- MS State Medical License 2017 - 2023
- OH State Medical License 2015 - 2018
- American Board of Pediatrics Pediatrics
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig
Brain. 2022-08-27 - 2 citationsBiallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022-03-01 - 27 citationsLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward
Nature Communications. 2021-05-07
Professional Memberships
- Member
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Other Languages
- Spanish
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