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Office
222 E 41st St
New York, NY 10017Phone+1 212-263-8344Fax+1 212-263-8310
Summary
- Director, Lysosomal Storage Disorders Program;
Associate Director, Division of Neurogenetics
Education & Training
- Nationwide Childrens HospitalFellowship, Gene Therapy, 2019 - 2021
- Boston Children’s Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolResidency, Neurodevelopmental Disabilities, 2015 - 2019
- NYU Grossman School of MedicineResidency, Pediatrics, 2013 - 2015
- Harvard Medical SchoolClass of 2013
Certifications & Licensure
- NY State Medical License 2021 - 2025
- OH State Medical License 2019 - 2023
- MA State Medical License 2015 - 2021
- American Board of Pediatrics Pediatrics
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
- American Board of Psychiatry and Neurology Neurodevelopmental Disabilities
Clinical Trials
- Early Access Program With Arimoclomol in US Patients With NPC
Roles: Principal Investigator, Contact
Publications & Presentations
PubMed
- Further delineation of the SCAF4-associated neurodevelopmental disorder.Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman
European Journal of Human Genetics. 2024-12-12 - Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.Athanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, Haruki Fujisawa, Manassawee Korwutthikulrangsri
Genetics in Medicine. 2024-12-01 - Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.Genevieve E Wilson, Deberah S Goldman, Harriet Saxe, Xiaochun Li, Judith D Goldberg
Journal of the Neurological Sciences. 2024-09-15
Other Languages
- Spanish
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