| 22q11. 2 deletion syndrome DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ... Nature reviews Disease primers 1 (1), 1-19, 2015 | 1174 | 2015 |
| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi, S Martinelli, ... Nature genetics 39 (8), 1007-1012, 2007 | 796 | 2007 |
| Practical guidelines for managing patients with 22q11. 2 deletion syndrome AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ... The Journal of pediatrics 159 (2), 332-339. e1, 2011 | 694 | 2011 |
| Inferior vena cava-pulmonary artery extracardiac conduit: a new form of right heart bypass C Marcelletti, A Como, S Giannico, B Marino The Journal of thoracic and cardiovascular surgery 100 (2), 228-232, 1990 | 630 | 1990 |
| Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene MC Digilio, E Conti, A Sarkozy, R Mingarelli, T Dottorini, B Marino, ... The American Journal of Human Genetics 71 (2), 389-394, 2002 | 490 | 2002 |
| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis VL Ruiz-Perez, SE Ide, TM Strom, B Lorenz, D Wilson, K Woods, L King, ... Nature genetics 24 (3), 283-286, 2000 | 376 | 2000 |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ... Human mutation 30 (4), 695-702, 2009 | 355 | 2009 |
| Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects RN Bamford, E Roessler, RD Burdine, U Şaplakoğlu, M Splitt, J Towbin, ... Nature genetics 26 (3), 365-369, 2000 | 352 | 2000 |
| Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal B Marino, MC Digilio, A Toscano, A Giannotti, B Dallapiccola The Journal of pediatrics 135 (6), 703-706, 1999 | 309 | 1999 |
| Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes A Sarkozy, E Conti, D Seripa, MC Digilio, N Grifone, C Tandoi, VM Fazio, ... Journal of medical genetics 40 (9), 704-708, 2003 | 217 | 2003 |
| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ... Journal of Medical Genetics 41 (5), e68-e68, 2004 | 202 | 2004 |
| Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome G Limongelli, G Pacileo, B Marino, MC Digilio, A Sarkozy, P Elliott, ... The American journal of cardiology 100 (4), 736-741, 2007 | 187 | 2007 |
| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome A De Luca, I Bottillo, A Sarkozy, C Carta, C Neri, E Bellacchio, A Schirinzi, ... The American Journal of Human Genetics 77 (6), 1092-1101, 2005 | 183 | 2005 |
| Spectrum of atrial septal defects associated with mutations of NKX2. 5 and GATA4 transcription factors A Sarkozy, E Conti, C Neri, R d’Agostino, MC Digilio, G Esposito, ... Journal of medical genetics 42 (2), e16-e16, 2005 | 183 | 2005 |
| LEOPARD syndrome: clinical diagnosis in the first year of life MC Digilio, A Sarkozy, A de Zorzi, G Pacileo, G Limongelli, R Mingarelli, ... American journal of medical genetics Part A 140 (7), 740-746, 2006 | 181 | 2006 |
| Anatomic patterns of conotruncal defects associated with deletion 22q11 B Marino, MC Digilio, A Toscano, S Anaclerio, A Giannotti, C Feltri, ... Genetics in Medicine 3 (1), 45-48, 2001 | 180 | 2001 |
| Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot A Pizzuti, A Sarkozy, AL Newton, E Conti, E Flex, M Cristina Digilio, ... Human mutation 22 (5), 372-377, 2003 | 177 | 2003 |
| Clinical features and follow-up in patients with 22q11. 2 deletion syndrome C Cancrini, P Puliafito, MC Digilio, A Soresina, S Martino, R Rondelli, ... The Journal of pediatrics 164 (6), 1475-1480. e2, 2014 | 167 | 2014 |
| Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype B Marino, MC Digilio Cardiovascular Pathology 9 (6), 303-315, 2000 | 164 | 2000 |
| Atrioventricular canal in Down syndrome: prevalence of associated cardiac malformations compared with patients without Down syndrome B Marino, U Vairo, A Corno, S Nava, P Guccione, R Calabró, C Marcelletti American Journal of Diseases of Children 144 (10), 1120-1122, 1990 | 159 | 1990 |
