Deborah S Barbouth MD FACMG, FAAP
Clinical Biochemical Genetics, Clinical Genetics
Clinical Associate Professor Dept. of Human Genetics at the University of Miami Medical Director for Newborn Screening for South Florida Board certified in Pediatrics, Clinical, and Biochemical Genetics
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1601 NW 12th Ave# M851Miami, FL 33136
Phone+1 305-243-4029
Fax+1 305-243-8470
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Education & Training
University of Miami/Jackson Health SystemResidency, Medical Genetics and Genomics, 2003 - 2005
Montefiore Medical Center/Albert Einstein College of MedicineResidency, Medical Genetics and Genomics, 2002 - 2003- University of Miami/Jackson Health SystemResidency, Pediatrics, 1999 - 2002
Maimonides University Faculty of MedicineClass of 1998
Certifications & Licensure
FL State Medical License 2003 - 2026
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics- American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- Super Doctor SuperDoctors.com
Publications & Presentations
PubMed
- Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.Kiana Magee, William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth
Journal of Human Genetics. 2025-03-01 - 2 citationsADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.Vladimir Camarena, Monique M Williams, Alejo A Morales, Mohammad F Zafeer, Okan V Kilic
JCI Insight. 2024-02-01 - 12 citationsAdeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.Manuela Corti, Barry J Byrne, Dominic J Gessler, Grace Thompson, Samantha Norman
Molecular Therapy. Methods & Clinical Development. 2023-09-14
Journal Articles
- Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation Is Associated with Poor PrognosisPaolo G Rusconi, Deborah S Barbouth, Journal of Pediatric Genetics
Other Languages
- Spanish
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