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Office
1501 NW 10th Ave
Miami, FL 33136Phone+1 305-213-2823Fax+1 305-243-3919
Education & Training
- University of Miami/Jackson Health SystemResidency, Internal Medicine/Pediatrics, 2008 - 2012
- Creighton University School of MedicineClass of 2008
Certifications & Licensure
- FL State Medical License 2012 - 2026
- CA State Medical License 2015 - 2021
- HI State Medical License 2016 - 2018
- American Board of Internal Medicine Internal Medicine
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
Roles: Principal Investigator
Publications & Presentations
PubMed
- 32 citationsGenotype–phenotype correlations in individuals with pathogenic RERE variantsValerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica L. Giordano, Ronald J. Wapner
Human Mutation. 2018-05-01 - 15 citationsA unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutationsElaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan
Ophthalmic Genetics. 2020-06-16 - 21 citations22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hi...Nadia Falah, Jennifer E. Posey, Willa Thorson, Paul J. Benke, Mustafa Tekin
American Journal of Medical Genetics. Part A. 2017-04-01
Press Mentions
- Angioma Alliance Recognizes the University of Miami as an Overall Center of Excellence for Cavernous MalformationsSeptember 19th, 2022
- Angioma Alliance Recognizes the University of Miami as an Overall Center of Excellence for Cavernous MalformationsSeptember 19th, 2022
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