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Office
905 S Lasalle Street
Durham, NC 27710Phone+1 919-684-2036
Education & Training
Icahn School of Medicine at Mount SinaiClass of 2015
Certifications & Licensure
NC State Medical License 2019 - 2025
PA State Medical License 2015 - 2019- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 2 citationsNovel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor
American Journal of Medical Genetics. Part A. 2023-11-01 - 6 citationsDevelopment of a clinically validatedfunctional assay to assess pathogenicity of novelvariants in patients with Pompe disease identifiednewborn screening.Shelly Goomber, Erin Huggins, Catherine W Rehder, Jennifer L Cohen, Deeksha S Bali
Frontiers in Genetics. 2022-01-01 - 4 citationsRapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K G Tan, David Jackson
Journal of Personalized Medicine. 2022-11-18
Press Mentions
In a First, a Fatal Enzyme Deficiency Is Treated in the WombNovember 9th, 2022
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