María Clara Bonaglia

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 354 citations · Full text

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

María Clara Bonaglia, Roberto Giorda, Renato Borgatti et al. · The American Journal of Human Genetics · 2001 · 323 citations · Full text

Gene Deletion Data, Deletion Syndrome, Signal Transduction +11

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

Stefania Corti, Monica Nizzardo, Chiara Simone et al. · Science Translational Medicine · 2012 · 204 citations · Full text

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone et al. · European Journal of Human Genetics · 2010 · 187 citations · Full text

Developmental Biology, Mendelian Disorder, Severe Speech Impairment +10