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Office
1001 Blythe Blvd
Medical Center Plaza Suite 200
Charlotte, NC 28203Phone+1 704-381-8840Fax+1 704-381-6811
Education & Training
Stanford Health Care-Sponsored Stanford UniversityResidency, Medical Genetics and Genomics, 2017 - 2019
Wake Forest University Baptist Medical CenterResidency, Pediatrics, 2014 - 2017
Florida State University College of MedicineClass of 2014
Certifications & Licensure
NC State Medical License 2019 - 2025
CA State Medical License 2017 - 2020- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 4 citationsElucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs
Genetics in Medicine. 2023-11-01 - 2 citationsA rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.Irina Geiculescu, Jason Dranove, Graham Cosper, Andrew C Edmondson, Eva Morava-Kozicz
American Journal of Medical Genetics. Part A. 2022-08-01 - 51 citationsSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andres Hernandez-Garcia
American Journal of Human Genetics. 2021-03-04
Committees
- Vice-chair, American College of Medical Genetics Education Committee 2023 - Present
- Member, North Carolina Genetics and Genomics Advisory Committee
Professional Memberships
- American College of Medical GeneticsFellow
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