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Office
6673 Germantown Ave
Philadelphia, PA 19119Phone+1 215-247-2996
Education & Training
Commonwealth Medical CollegeClass of 2018
Certifications & Licensure
PA State Medical License 2021 - 2024- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva
Genetics in Medicine. 2024-09-10 - CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.Connolly Steigerwald, Jill Borsuk, John Pappas, Miranda Galey, Anna Scott
Molecular Genetics and Metabolism. 2023-12-01 - 4 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
Genes. 2023-05-29
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