| Disruption of the ProSAP2 gene in at (12; 22)(q24. 1; q13. 3) is associated with the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, R Borgatti, G Felisari, C Gagliardi, A Selicorni, ... The American Journal of Human Genetics 69 (2), 261-268, 2001 | 367 | 2001 |
| Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 342 | 2007 |
| Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, E Mani, G Aceti, BM Anderlid, A Baroncini, ... Journal of medical genetics 43 (10), 822-828, 2006 | 240 | 2006 |
| Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy S Corti, M Nizzardo, C Simone, M Falcone, M Nardini, D Ronchi, ... Science translational medicine 4 (165), 165ra162-165ra162, 2012 | 233 | 2012 |
| Agenesis of the corpus callosum: clinical and genetic study in 63 young patients MF Bedeschi, MC Bonaglia, R Grasso, A Pellegri, RR Garghentino, ... Pediatric neurology 34 (3), 186-193, 2006 | 221 | 2006 |
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ... PLoS genetics 7 (7), e1002173, 2011 | 211 | 2011 |
| Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations E Rossi, F Piccini, M Zollino, G Neri, D Caselli, R Tenconi, C Castellan, ... Journal of medical genetics 38 (6), 417-420, 2001 | 152 | 2001 |
| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment N Brunetti-Pierri, AR Paciorkowski, R Ciccone, ED Mina, MC Bonaglia, ... European Journal of Human Genetics 19 (1), 102-107, 2011 | 135 | 2011 |
| The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications. G Floridia, M Piantanida, A Minelli, C Dellavecchia, C Bonaglia, E Rossi, ... American journal of human genetics 58 (4), 785, 1996 | 131 | 1996 |
| Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability AT Pagnamenta, H Khan, S Walker, D Gerrelli, K Wing, MC Bonaglia, ... Journal of medical genetics 48 (1), 48-54, 2011 | 126 | 2011 |
| Molecular analysis of 20 patients with 2q37. 3 monosomy: definition of minimum deletion intervals for key phenotypes MA Aldred, ROC Sanford, NS Thomas, MA Barrow, LC Wilson, ... Journal of medical genetics 41 (6), 433-439, 2004 | 117 | 2004 |
| Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype MC Bonaglia, R Ciccone, G Gimelli, S Gimelli, S Marelli, J Verheij, ... European Journal of Human Genetics 16 (12), 1443-1449, 2008 | 111 | 2008 |
| Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis BWM van Bon, DA Koolen, R Borgatti, A Magee, S Garcia-Minaur, ... Journal of medical genetics 45 (6), 346-354, 2008 | 102 | 2008 |
| Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects S Giglio, SL Graw, G Gimelli, B Pirola, P Varone, L Voullaire, F Lerzo, ... Circulation 102 (4), 432-437, 2000 | 98 | 2000 |
| Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11. 23 deletion C Gagliardi, MC Bonaglia, A Selicorni, R Borgatti, R Giorda Journal of medical genetics 40 (7), 526-530, 2003 | 96 | 2003 |
| DNA methylation regulates tissue‐specific expression of Shank3 S Beri, N Tonna, G Menozzi, MC Bonaglia, C Sala, R Giorda Journal of neurochemistry 101 (5), 1380-1391, 2007 | 89 | 2007 |
| Inverted duplications deletions: underdiagnosed rearrangements?? O Zuffardi, M Bonaglia, R Ciccone, R Giorda Clinical genetics 75 (6), 505-513, 2009 | 87 | 2009 |
| Complex segmental duplications mediate a recurrent dup (X)(p11. 22-p11. 23) associated with mental retardation, speech delay, and EEG anomalies in males and females R Giorda, MC Bonaglia, S Beri, M Fichera, F Novara, P Magini, J Urquhart, ... The American Journal of Human Genetics 85 (3), 394-400, 2009 | 85 | 2009 |
| Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ... European Journal of Human Genetics 23 (8), 1025-1032, 2015 | 84 | 2015 |
| Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q MC Bonaglia, R Giorda, G Poggi, ME Raggi, E Rossi, A Baroncini, ... European Journal of Human Genetics 8 (8), 597-603, 2000 | 71 | 2000 |
Orsetta ZuffardiProfessor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia ViaGeverifieerd e-mailadres voor unipv.it
