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
- 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 - 97 citationsDetection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.Yao Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Cohn Sacharow
Human Mutation. 2007-11-01 - 22 citationsDe Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin
American Journal of Human Genetics. 2017-02-02
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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