V. Ottaviani

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly

D. Toccaceli, P. Prontera, E. Donti, 2014, American journal of medical genetics. Part A.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

G. Merla, A. Mencarelli, P. Prontera, 2017, International journal of molecular sciences.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

A. Migliaccio, T. Papayannopoulou, P. Prontera, 2015, Blood.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

J. Stamatoyannopoulos, A. Migliaccio, P. Prontera, 2015, Blood.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

A. Mencarelli, P. Prontera, E. Donti, 2013, Molecular Syndromology.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

Cardiac relapses in myeloid leukemia: case report and review of the literature.

M. Galli, G. Masera, C. Uderzo, 1987, Pediatric hematology and oncology.

A novel MED12 mutation: Evidence for a fourth phenotype

A. V. Vulto-van Silfhout, G. Merla, A. Mencarelli, 2016, American journal of medical genetics. Part A.