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Office
4800 Sand Point Way NE
Seattle, WA 98105Phone+1 206-987-2000Fax+1 720-777-7258
Education & Training
University of ColoradoResidency, Pediatrics, 2016 - 2019
The Warren Alpert Medical School of Brown UniversityClass of 2016
Certifications & Licensure
ID State Medical License 2023 - 2026
OR State Medical License 2023 - 2025
WA State Medical License 2022 - 2025
CO State Medical License 2019 - 2023- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 4 citationsThe mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.Kaz M. Knight, Emily Shelkowitz, Austin Larson, David M. Mirsky, Yue Wang
Mitochondrion. 2020-09-12 - 19 citationsIRF2BPL gene mutation: Expanding on neurologic phenotypes.Emily Shelkowitz, Jasleen K. Singh, Austin Larson, Ellen R. Elias
American Journal of Medical Genetics. Part A. 2019-08-20 - 3 citationsKetogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Emily Shelkowitz, Russell P Saneto, Walla Al-Hertani, Charlotte M A Lubout, Nicholas V Stence
Orphanet Journal of Rare Diseases. 2022-12-05
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