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34th St. & Civic Center BlvdThe Children's Hospital Of Philadelphia, Room 9nw55Philadelphia, PA 19104
Phone+1 215-590-2437
Fax+1 215-590-2768
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Education & Training
Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 2015 - 2016- Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
Case Western Reserve University School of MedicineClass of 2010
Oberlin CollegeB.A., Biology and Computer Science, Magna Cum Laude, 2001 - 2005
Certifications & Licensure
FL State Medical License 2022 - Present
PA State Medical License 2010 - 2026
NC State Medical License 2020 - 2022
OR State Medical License 2020 - 2022
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Koch Memorial Fellowship National Phenylketonuria Alliance, 2015
- Phi Beta Kappa 2005
- Sigma Xi 2005
Publications & Presentations
PubMed
- Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.Anthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, Eric Bareke, Yasmin D'Souza
Molecular Genetics and Metabolism. 2025-05-01 - Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T Peterson
AJNR. American Journal of Neuroradiology. 2025-04-10 - Advancing precision care in pregnancy through a treatable fetal findings list.Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, Julie Yeo, Mark Fleming
American Journal of Human Genetics. 2025-04-03
Books/Book Chapters
Press Mentions
Study Reveals Diverse Progression in Mitochondrial DNA Deletion SyndromesFebruary 20th, 2025- New Mitochondrial Disease Identified in Identical TwinsOctober 13th, 2022
- Developmental Delays Related to Leigh Syndrome May Occur Earlier Than Previously KnownMarch 1st, 2022
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Grant Support
- Biochemical and Physiological Phenotypes of CV Dysfunction In Human Cell ModelsCHILDREN'S HOSP OF PHILADELPHIA2023–2028
- Medical Genetics Research Training GrantCHILDREN'S HOSP OF PHILADELPHIA1997–2027
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