| New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ... Italian journal of pediatrics 42, 1-11, 2016 | 36 | 2016 |
| Clinical description of a patient carrying the smallest reported deletion involving 10p14 region D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ... American Journal of Medical Genetics Part A 158 (4), 832-835, 2012 | 30 | 2012 |
| Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene P Fontana, R Genesio, A Casertano, G Cappuccio, A Mormile, L Nitsch, ... Gene 538 (1), 69-73, 2014 | 24 | 2014 |
| Constitutional chromothripsis involving the critical region of 9q21. 13 microdeletion syndrome R Genesio, P Fontana, A Mormile, A Casertano, M Falco, A Conti, ... Molecular Cytogenetics 8, 1-6, 2015 | 17 | 2015 |
| Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder G Cappuccio, S Attanasio, M Alagia, M Mutarelli, R Borzone, M Karali, ... European Journal of Human Genetics 27 (9), 1475-1480, 2019 | 14 | 2019 |
| Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X; 1 translocation R Genesio, A Mormile, MR Licenziati, D De Brasi, G Leone, S Balzano, ... Molecular cytogenetics 8, 1-8, 2015 | 12 | 2015 |
| Pure 16q21q22. 1 deletion in a complex rearrangement possibly caused by a chromothripsis event R Genesio, V Ronga, P Castelluccio, G Fioretti, A Mormile, G Leone, ... Molecular Cytogenetics 6, 1-8, 2013 | 11 | 2013 |
| An emerging phenotype of proximal 11q deletions D Melis, R Genesio, M Cozzolino, E Del Giudice, A Mormile, F Imperati, ... European Journal of Medical Genetics 53 (5), 340-343, 2010 | 11 | 2010 |
| Prenatally diagnosed distal 16p11. 2 microdeletion with a novel association with congenital diaphragmatic hernia: A case report R Genesio, GM Maruotti, G Saccone, A Mormile, A Conti, R Cicatiello, ... Clinical Case Reports 6 (4), 592, 2018 | 7 | 2018 |
| Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring D Melis, R Genesio, E Del Giudice, R Taurisano, A Mormile, F D’Elia, ... Clinical Dysmorphology 21 (1), 27-32, 2012 | 4 | 2012 |
| A pseudogene increasing LRFN5 expression in a patient with 14q21. 2 deletion and autism G Cappuccio, M Alagia, R Borzone, S Attanasio, R Genesio, A Mormile, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 231-232, 2019 | | 2019 |
| Varianti polimorfiche della regione 11q25: difficoltà di interpretazione dei risultati della array CGH. G Cappuccio, R Genesio, P Boemio, G Minopoli, B Granese, A Mormile, ... | | 2011 |
| Variegated silencing of a large Xq region causes hypomelanosis of Ito phenotype in a case of balanced X; 2 translocation. A Conti, R Genesio, F Fabbrini, A Izzo, V Ronga, A Mormile, D Melis, ... | | 2009 |
| Prenatally diagnosed distal 16p11. 2 microdeletion with a novel association with congenital diaphragmatic hernia R Genesio, GM Maruotti, G Saccone, A Mormile, A Conti, R Cicatiello, ... | | |
