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Office
60 W Gore St
Orlando, FL 32806Phone+1 407-648-7802Fax+1 321-841-3709
Education & Training
- Icahn School of Medicine at Mount SinaiResidency, Medical Genetics and Genomics, 2008 - 2010
- Universidad del Norte Faculty of MedicineClass of 2003
Certifications & Licensure
- FL State Medical License 2010 - 2026
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 25 citationsBiallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente
American Journal of Human Genetics. 2017-08-03 - 167 citationsRare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme L. Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch
Journal of Medical Genetics. 2015-03-20 - 38 citationsPathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter
Genetics in Medicine. 2019-08-01
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