DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN GENETICA ONCOLOGIA E MEDICINA CLINICA

UNIVERSITA' DEGLI STUDI  DI SIENA

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Publications during the PhD program

 
Grillo Elisa         
 

1) Investigation of modifier genes within copy number variations in Rett syndrome.

Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.

J Hum Genet. 2011 Jul;56(7):508-15. doi: 10.1038/jhg.2011.50. Epub 2011 May 19. Erratum in: J Hum Genet. 2012 May;57(5):342-4.

 

2) Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

De Filippis R, Pancrazi L, Bjřrgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli M, Hayek J, Renieri A, Costa M, Mari F.

Clin Genet. 2011 Nov 17.

 

3) Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.

Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.

Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13.

 

4) 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. 2013;8(2):e56599.