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.
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