| Germline mutations in HRAS proto-oncogene cause Costello syndrome Y Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi, Y Tanaka, ... Nature genetics 37 (10), 1038-1040, 2005 | 782 | 2005 |
| Lysosomal storage disorders: molecular basis and laboratory testing M Filocamo, A Morrone Human genomics 5, 1-14, 2011 | 197 | 2011 |
| GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011 | 184 | 2011 |
| Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase I Bendikov-Bar, G Maor, M Filocamo, M Horowitz Blood Cells, Molecules, and Diseases 50 (2), 141-145, 2013 | 174 | 2013 |
| Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II ALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ... Human mutation 27 (10), 999-1006, 2006 | 157 | 2006 |
| Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ... Molecular Therapy 15 (3), 508-514, 2007 | 151 | 2007 |
| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ... Human mutation 31 (12), E1894-E1914, 2010 | 137 | 2010 |
| Unfolded protein response in Gaucher disease: from human to Drosophila G Maor, S Rencus-Lazar, M Filocamo, H Steller, D Segal, M Horowitz Orphanet journal of rare diseases 8, 1-14, 2013 | 133 | 2013 |
| Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant I Bendikov-Bar, I Ron, M Filocamo, M Horowitz Blood Cells, Molecules, and Diseases 46 (1), 4-10, 2011 | 132 | 2011 |
| Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy M Cesani, L Lorioli, S Grossi, G Amico, F Fumagalli, I Spiga, M Filocamo, ... Human mutation 37 (1), 16-27, 2016 | 131 | 2016 |
| Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes BA Chiefari E, Iiritano S, Paonessa F, Le Pera I Nature Communications, 1, 2010 | 124* | 2010 |
| Functional variants of the HMGA1 gene and type 2 diabetes mellitus E Chiefari, S Tanyolaç, F Paonessa, CR Pullinger, C Capula, S Iiritano, ... Jama 305 (9), 903-912, 2011 | 112 | 2011 |
| Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy R Boldrini, R Devito, R Biselli, M Filocamo, C Bosman Pathology-Research and Practice 200 (3), 231-240, 2004 | 104 | 2004 |
| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α‐L‐iduronidase (IDUA) alleles F Bertola, M Filocamo, G Casati, M Mort, C Rosano, A Tylki‐Szymanska, ... Human mutation 32 (6), E2189-E2210, 2011 | 102 | 2011 |
| SMPD1 mutation update: database and comprehensive analysis of published and novel variants S Zampieri, M Filocamo, A Pianta, S Lualdi, L Gort, MJ Coll, R Sinnott, ... Human mutation 37 (2), 139-147, 2016 | 101 | 2016 |
| Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease T Fasano, L Pisciotta, L Bocchi, O Guardamagna, P Assandro, ... Molecular genetics and metabolism 105 (3), 450-456, 2012 | 99 | 2012 |
| The role of a bioresource research impact factor as an incentive to share human bioresources TGA Cambon-Thomsen A, ML Named collaborators, Andrieu S, Bertier G Nature Genetics 43, 503, 2011 | 96 | 2011 |
| Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency MP Cosma, S Pepe, G Parenti, C Settembre, I Annunziata, ... Human mutation 23 (6), 576-581, 2004 | 96 | 2004 |
| Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis M Donnarumma, S Regis, B Tappino, C Rosano, S Assereto, F Corsolini, ... Human mutation 28 (5), 524-524, 2007 | 86 | 2007 |
| The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases M Mora, C Angelini, F Bignami, AM Bodin, M Crimi, JH Di Donato, ... European Journal of Human Genetics 23 (9), 1116-1123, 2015 | 85 | 2015 |
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