Laura BIANCIARDI  

PhD Program years: 2012 - 2015

1. Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing
E. Grillo, C. Lo Rizzo, L. Bianciardi, V. Bizzarri, M. Baldassarri, O. Spiga, S. Furini, C. De Felice, C. Signorini, S. Leoncini, A. Pecorelli, L. Ciccoli, M.A. Mencarelli, J. Hayek, I. Meloni, F. Ariani, F. Mari, A. Renieri

Plos One in press

           1. “Rett syndrome: potential sources of phenotypic variability inferred from exome sequencing” (XVI Congresso Nazionale                  SIGU, Rome, 25-28 September 2013)
          ACCEPTED AS ORAL COMMUNICATION

          2. “Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing” (ESHG 2013 Annual Meeting, Paris,             8-11 June 2013)

          3. “Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing” (XV Congresso Nazionale SIGU,                    Sorrento, 21-24 November 2012)

           4. “Investigating the genetic basis of Poland Syndrome by exome sequencing” (XV Congresso Nazionale SIGU, Sorrento, 21-24             November 2012)

           5. “Revealing the complex nature of a monogenic disease: exome sequencing of Rett syndrome” (ASHG 2012 Annual                         Meeting, San Francisco, 6-10 November 2012)

---