DeborahSBarbouthMDFACMG, FAAP
Medical Genetics • Weston, FLClinical 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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Office
1855 North Corporate Lakes Boulevard
Suite 3
Weston, FL 33326- Is this information wrong?
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
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Super Doctor SuperDoctors.com
Publications & Presentations
PubMed
- ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.Vladimir Camarena, Monique M Williams, Alejo A Morales, Mohammad F Zafeer, Okan V Kilic, Ali Kamiar, Clemer Abad, Monica A Rasmussen, Laurence M Briski, LéShon Peart, ...> ;JCI Insight. 2024 Feb 1
- 3 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, Jenna Lammers, Kirsten E Coleman, Cristina Liberati, Melissa E Elder, Maria L Escolar...> ;Molecular Therapy. Methods & Clinical Development. 2023 Sep 14
- 3 citationsGenome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, , Guney Bademci, Mustafa Tekin> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
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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
Hospital Affiliations
University of Miami HospitalMiami, Florida
Jackson Health SystemMiami, Florida
UMHC-Sylvester Comprehensive Cancer CenterMiami, Florida
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