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Office
6673 Germantown Ave
Philadelphia, PA 19119Phone+1 215-247-2996- Is this information wrong?
Education & Training
- Commonwealth Medical CollegeClass of 2018
Certifications & Licensure
- PA State Medical License 2018 - 2024
- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.Jill Borsuk, John Pappas, Miranda Galey, Anna Scott, Joseph M Devaney, Danny E Miller, Nicolas J Abreu, Connolly Steigerwald> ;Molecular Genetics and Metabolism. 2023 Dec 1
- 3 citationsClinical Heterogeneity and Different Phenotypes in Patients withVariants: 18 New Patients and Review of the Literature.Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry P...> ;Genes. 2023 May 29
- 2 citationsImpaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.Sally C Fletcher, Charlotte Hall, Tristan J Kennedy, Sander Pajusalu, Monica H Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian Ae Westrip, Reg...> ;The Journal of Clinical Investigation. 2023 Apr 3
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Hospital Affiliations
- NYC Health + Hospitals / BellevueNew York, New York
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