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34th Civic Center Boulevard 9nw55Choppediatricsmedical Genetics Residency ProgramPhiladelphia, PA 19104
Phone+1 215-590-1220
Fax+1 215-590-2768
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Education & Training
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2011 - 2016
Weill Cornell MedicineClass of 2011
Certifications & Licensure
PA State Medical License 2011 - 2026
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
- MBOAT7 encephalopathy: Characterizing the neurology and epileptology.Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, Tobias Bartolomaeus, Maria Escolar
Epilepsia. 2025-03-21 - Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations.Lucas Tricoli, Sunetra Sase, Julia L Hacker, Vi Pham, Maxwell Chappell
Molecular Therapy. Nucleic Acids. 2025-03-11 - 1 citationsExpanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo
Genetics in Medicine. 2025-03-01
Press Mentions
Grant Supports Gene-Editing Research for Rare Metabolic DiseasesOctober 9th, 2024- Effective New Gene Therapy to Treat Multiple Sulfatase DeficiencySeptember 9th, 2024
- Researchers Develop Gene Editing Approaches for Phenylketonuria TreatmentNovember 3rd, 2023
Grant Support
- Investigation Of Arrhythmias In Anthropomorphized Murine Cardiac Myocytes.National Heart, Lung, And Blood Institute2008–2010
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