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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
- Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cor...Jeffrey B Russ, Alexa C Stone, Kayli Maney, Lauren Morris, Caroline F Wright
Biorxiv. 2024-07-02 - 1 citationsBi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo
NPJ Genomic Medicine. 2024-03-01 - 4 citationsIntrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.Akos Herzeg, Beltran Borges, Billie R Lianoglou, Juan Gonzalez-Velez, Emma Canepa
Prenatal Diagnosis. 2023-12-01
Press Mentions
- In a First, a Fatal Enzyme Deficiency Is Treated in the WombNovember 9th, 2022
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