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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
- The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet
Genetics in Medicine. 2024-12-12 - Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva
Genetics in Medicine. 2024-09-10 - 9 citationsComplete loss of the X-linked genecauses severe cerebellar degeneration.Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte
Journal of Medical Genetics. 2022-11-01
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