Clinical Associate Professor
Pediatrics, Clinical Genetics
Residency
Pediatrics, University of Tennessee Health Science Center, Memphis, LeBonheur Children's Hospital
Fellowship
Clinical Genetics, University of Tennessee Health Science Center, Memphis, Tennessee
American Board of Pediatrics
American Board of Medical Genetics
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, BaraƱano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber D, Tartaglia M, Hamdan FF, Grabinska KA, Leuzzi V.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2021 Aug 11:awab299. [Epub ahead of print]
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