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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 - 4 citationsPerinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.Lauren B. Carter, Agatino Battaglia, Athena M. Cherry, Melanie A. Manning, Maura R.Z. Ruzhnikov
American Journal of Medical Genetics. Part A. 2019-06-17 - 48 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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