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Education & Training
- University of Chicago Division of the Biological Sciences The Pritzker School of MedicineClass of 2024
Certifications & Licensure
- MA State Medical License 2024 - 2026
Publications & Presentations
PubMed
- 1 citationsVariant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.Jennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, Shelly Goomber, Yinghong Pan
Molecular Genetics and Metabolism. 2023-10-26 - Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.Rachel G Son, Balamurugan Kandasamy, Tiana Bowden, Ruba K Azzam, Scott A Oakes
Journal of the Endocrine Society. 2023-01-06