DeborahSBarbouthMDFACMG, FAAP
Medical Genetics • Miami, 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
1601 NW 12th Ave
# M851
Miami, FL 33136Phone+1 305-243-4029Fax+1 305-243-8470
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
- 40 citationsPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman
Biological Psychiatry. 2020-01-15 - 149 citationsFragile X syndrome: A review of associated medical problemsSharon A. Kidd, Ave M. Lachiewicz, Deborah Barbouth, Robin K. Blitz, Carol Delahunty
Pediatrics. 2014-11-01 - 14 citationsHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce
Genetics in Medicine. 2021-06-10
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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