Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.

Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome. Mol Syndromol 2012;3(1):21-24.

Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P. Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. Dermatology 2012;225(4):294-7.

Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. Mol Syndromol 2012;3(1):30-33.