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Office
411 E Chestnut St Level 2
Norton Children's Genetics Center
Louisville, KY 40202- Is this information wrong?
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, Gretchen Von Allmen, Megan T Cho, Kimberly McDonald, Janice Baker, Vikas Bhambhani, Zöe ...> ;Brain. 2022 Aug 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, Maria Grazia Gensini, Emilia K Bijlsma, Tamara T Koopmann, Mariett...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Mar 1
- 24 citationsLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong Hee Chae, Murim Choi, Karine Siquier,...> ;Nature Communications. 2021 May 7
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Professional Memberships
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Other Languages
- Spanish
Hospital Affiliations
Norton Children's HospitalLouisville, Kentucky
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