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 | 425 | 2006 |
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 | 341 | 2009 |
Genetic evidence for lineage-related and differentiation stage–related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia M Tartaglia, S Martinelli, G Cazzaniga, V Cordeddu, I Iavarone, M Spinelli, ... Blood 104 (2), 307-313, 2004 | 333 | 2004 |
A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital … A Olivieri, MA Stazi, P Mastroiacovo, C Fazzini, E Medda, A Spagnolo, ... The Journal of Clinical Endocrinology & Metabolism 87 (2), 557-562, 2002 | 293 | 2002 |
Missense mutation in the transcription factor NKX2–5: a novel molecular event in the pathogenesis of thyroid dysgenesis M Dentice, V Cordeddu, A Rosica, AM Ferrara, L Santarpia, D Salvatore, ... The Journal of Clinical Endocrinology & Metabolism 91 (4), 1428-1433, 2006 | 200 | 2006 |
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 |
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome M Tartaglia, V Cordeddu, H Chang, A Shaw, K Kalidas, A Crosby, ... The American Journal of Human Genetics 75 (3), 492-497, 2004 | 111 | 2004 |
Gene therapy in retinal dystrophies L Ziccardi, V Cordeddu, L Gaddini, A Matteucci, M Parravano, ... International journal of molecular sciences 20 (22), 5722, 2019 | 107 | 2019 |
Mutations in ZBTB20 cause Primrose syndrome V Cordeddu, B Redeker, E Stellacci, A Jongejan, A Fragale, TEJ Bradley, ... Nature genetics 46 (8), 815-817, 2014 | 102 | 2014 |
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations ML Dentici, A Sarkozy, F Pantaleoni, C Carta, F Lepri, R Ferese, ... European Journal of Human Genetics 17 (6), 733-740, 2009 | 92 | 2009 |
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome TE Neumann, J Allanson, I Kavamura, B Kerr, G Neri, J Noonan, ... European journal of human genetics 17 (4), 420-425, 2009 | 90 | 2009 |
High risk of congenital hypothyroidism in multiple pregnancies A Olivieri, E Medda, S De Angelis, H Valensise, M De Felice, C Fazzini, ... The Journal of Clinical Endocrinology & Metabolism 92 (8), 3141-3147, 2007 | 88 | 2007 |
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome V Cordeddu, JC Yin, C Gunnarsson, C Virtanen, S Drunat, F Lepri, ... Human mutation 36 (11), 1080-1087, 2015 | 87 | 2015 |
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia ML Loh, S Martinelli, V Cordeddu, MG Reynolds, S Vattikuti, CM Lee, ... Leukemia research 29 (4), 459-462, 2005 | 73 | 2005 |
Copy number variants in autism spectrum disorders S Vicari, E Napoli, V Cordeddu, D Menghini, V Alesi, S Loddo, A Novelli, ... Progress in Neuro-Psychopharmacology and Biological Psychiatry 92, 421-427, 2019 | 58 | 2019 |
Postpartum thyroiditis is associated with fluctuations in transforming growth factor-β1 serum levels A Olivieri, S De Angelis, V Vaccari, H Valensise, F Magnani, MA Stazi, ... The Journal of Clinical Endocrinology & Metabolism 88 (3), 1280-1284, 2003 | 33 | 2003 |
Study Group for Congenital Hypothyroidism A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from … A Olivieri, MA Stazi, P Mastroiacovo, C Fazzini, E Medda, A Spagnolo, ... J Clin Endocrinol Metab 87 (2), 557-62, 2002 | 29 | 2002 |
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy J Pablo Kaski, P Syrris, A Shaw, KZ Alapi, V Cordeddu, MTT Esteban, ... Circulation: Cardiovascular Genetics 5 (3), 317-326, 2012 | 27 | 2012 |
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation G Gargano, I Guidotti, E Balestri, F Vagnarelli, S Rosato, G Comitini, ... American Journal of Medical Genetics Part A 164 (4), 1015-1020, 2014 | 26 | 2014 |