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Office
300 Longwood Avenue
Boston, MA 02115Phone+1 617-355-5522
Education & Training
Boston Children’s Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolFellowship, Neurodevelopmental Disabilities, 2013 - 2017
Johns Hopkins UniversityResidency, Pediatrics, 2010 - 2013- Johns Hopkins University School of MedicineClass of 2010
Certifications & Licensure
MA State Medical License 2015 - 2025
NH State Medical License 2024 - 2024
LA State Medical License 2021 - 2022
NC State Medical License 2020 - 2022
OK State Medical License 2021 - 2021
KS State Medical License 2020 - 2020
MD State Medical License 2014 - 2017- 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
Publications & Presentations
PubMed
- Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima
American Journal of Medical Genetics. Part A. 2025-01-01 - 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 - Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein
NPJ Genomic Medicine. 2024-12-02
Press Mentions
- Research Offers Guidance on Genetic Testing for Cerebral PalsyFebruary 21st, 2023
- Our Daughter Had a Year Left to Live. We Had to Do Something Wonderful with the Time She Had LeftJune 8th, 2022
The Broad Phenotypic Spectrum of PPP2R1A-Related Neurodevelopmental Disorders Correlates with the Degree of Biochemical DysfunctionOctober 27th, 2020
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