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Office
300 Longwood Ave
Boston, MA 02115Phone+1 617-355-6346Fax+1 617-730-4784
Education & Training
- University of Miami/Jackson Health SystemResidency, Medical Genetics and Genomics, 2005 - 2007
- University of Miami/Jackson Health SystemResidency, Pediatrics, 2002 - 2005
- University of Miami Leonard M. Miller School of MedicineClass of 2002
Certifications & Licensure
- MA State Medical License 2015 - 2026
- FL State Medical License 2006 - 2016
- 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
- 54 citationsEvidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey L. Levy, Krista Viau, Heather Bausell
Genetics in Medicine. 2019-08-01 - 26 citationsA de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosisAnthony J. Griswold, Deqiong Ma, Stephanie Sacharow, Joycelyn L. Robinson, James Jaworski
Autism Research. 2011-06-01 - 17 citationsErratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2...Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin
American Journal of Human Genetics. 2017-04-06
Press Mentions
- Early Stage Investigator Spotlight: Stephanie Sacharow Helps Patients with Phenylketonuria Overcome Barriers to TreatmentOctober 25th, 2022
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