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| 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 | 128 | 2015 |
| Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade L Cesarini, P Alfieri, F Pantaleoni, I Vasta, M Cerutti, V Petrangeli, ... American Journal of Medical Genetics Part A 149 (2), 140-146, 2009 | 109 | 2009 |
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| Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations CP Kratz, G Zampino, M Kriek, SG Kant, C Leoni, F Pantaleoni, ... American Journal of Medical Genetics Part A 149 (5), 1036-1040, 2009 | 68 | 2009 |
| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome E Flex, A Ciolfi, V Caputo, V Fodale, C Leoni, D Melis, MF Bedeschi, ... Journal of medical genetics 50 (8), 493-499, 2013 | 54 | 2013 |
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| Transudative vs exudative pleural effusions: differentiation using Gd-DTPA-enhanced MRI C Frola, S Cantoni, I Turtulici, C Leoni, F Loria, M Gaeta, LE Derchi European radiology 7, 860-864, 1997 | 35 | 1997 |
| Rare and de novo coding variants in chromodomain genes in Chiari I malformation B Sadler, J Wilborn, L Antunes, T Kuensting, AT Hale, SR Gannon, ... The American Journal of Human Genetics 108 (1), 100-114, 2021 | 33 | 2021 |
| Herpes zoster and simplex reactivation following COVID-19 vaccination: new insights from a vaccine adverse event reporting system (VAERS) database analysis M Gringeri, V Battini, G Cammarata, G Mosini, G Guarnieri, C Leoni, ... Expert Review of Vaccines 21 (5), 675-684, 2022 | 32 | 2022 |
| Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review C Leoni, R Blandino, AB Delogu, G De Rosa, R Onesimo, V Verusio, ... American Journal of Medical Genetics Part A 188 (2), 431-445, 2022 | 31 | 2022 |
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