| Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome M Tartaglia, EL Mehler, R Goldberg, G Zampino, HG Brunner, H Kremer, ... Nature genetics 29 (4), 465-468, 2001 | 1913 | 2001 |
| 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 | 765 | 2007 |
| Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome M Tartaglia, LA Pennacchio, C Zhao, KK Yadav, V Fodale, A Sarkozy, ... Nature genetics 39 (1), 75-79, 2007 | 643 | 2007 |
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ... Nature genetics 41 (9), 1022-1026, 2009 | 449 | 2009 |
| Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease M Tartaglia, S Martinelli, L Stella, G Bocchinfuso, E Flex, V Cordeddu, ... The American Journal of Human Genetics 78 (2), 279-290, 2006 | 424 | 2006 |
| A restricted spectrum of NRAS mutations causes Noonan syndrome IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta, D Horn, AE Roberts, ... Nature genetics 42 (1), 27-29, 2010 | 351 | 2010 |
| 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 | 339 | 2009 |
| Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype S Martinelli, A De Luca, E Stellacci, C Rossi, S Checquolo, F Lepri, ... The American Journal of Human Genetics 87 (2), 250-257, 2010 | 274 | 2010 |
| Teratogenic effects of antiepileptic drugs: use of an International Database on Malformations and Drug Exposure (MADRE) C Arpino, S Brescianini, E Robert, EE Castilla, G Cocchi, MC Cornel, ... Epilepsia 41 (11), 1436-1443, 2000 | 272 | 2000 |
| Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype C Carta, F Pantaleoni, G Bocchinfuso, L Stella, I Vasta, A Sarkozy, ... The American Journal of Human Genetics 79 (1), 129-135, 2006 | 265 | 2006 |
| Noonan syndrome: clinical aspects and molecular pathogenesis M Tartaglia, G Zampino, BD Gelb Molecular syndromology 1 (1), 2-26, 2010 | 260 | 2010 |
| Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. P Mastroiacovo, C Corchia, LD Botto, R Lanni, G Zampino, D Fusco Journal of medical genetics 32 (6), 453-457, 1995 | 237 | 1995 |
| Genotype–phenotype correlations and clinical diagnostic criteria in Wolf‐Hirschhorn syndrome M Zollino, C Di Stefano, G Zampino, P Mastroiacovo, TJ Wright, G Sorge, ... American journal of medical genetics 94 (3), 254-261, 2000 | 200 | 2000 |
| 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 | 182 | 2005 |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin HC Hennies, U Kornak, H Zhang, J Egerer, X Zhang, W Seifert, ... Nature genetics 40 (12), 1410-1412, 2008 | 172 | 2008 |
| Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis E Flex, M Jaiswal, F Pantaleoni, S Martinelli, M Strullu, EK Fansa, A Caye, ... Human molecular genetics 23 (16), 4315-4327, 2014 | 156 | 2014 |
| p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ... European Journal of Human Genetics 23 (8), 1068-1071, 2015 | 153 | 2015 |
| Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome G Zampino, F Pantaleoni, C Carta, G Cobellis, I Vasta, C Neri, EA Pogna, ... Human mutation 28 (3), 265-272, 2007 | 145 | 2007 |
| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations F Lepri, A De Luca, L Stella, C Rossi, G Baldassarre, F Pantaleoni, ... Human mutation 32 (7), 760-772, 2011 | 138 | 2011 |
| Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 123 | 2015 |
