| Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) P Macchi, A Villa, S Giliani, MG Sacco, A Frattini, F Porta, AG Ugazio, ... Nature 377 (6544), 65-68, 1995 | 1041 | 1995 |
| Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ... Nature genetics 25 (3), 343-346, 2000 | 818 | 2000 |
| Partial V (D) J recombination activity leads to Omenn syndrome A Villa, S Santagata, F Bozzi, S Giliani, A Frattini, L Imberti, LB Gatta, ... Cell 93 (5), 885-896, 1998 | 508 | 1998 |
| Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ... Nature genetics 39 (8), 960-962, 2007 | 456 | 2007 |
| Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ... The American journal of human genetics 83 (1), 64-76, 2008 | 342 | 2008 |
| Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human N Chalhoub, N Benachenhou, V Rajapurohitam, M Pata, M Ferron, ... Nature medicine 9 (4), 399-406, 2003 | 313 | 2003 |
| Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis A Frattini, A Pangrazio, L Susani, C Sobacchi, M Mirolo, M Abinun, ... Journal of bone and mineral research 18 (10), 1740-1747, 2003 | 271 | 2003 |
| The mutational spectrum of human malignant autosomal recessive osteopetrosis C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ... Human molecular genetics 10 (17), 1767-1773, 2001 | 269 | 2001 |
| Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans L Van Wesenbeeck, PR Odgren, FP Coxon, A Frattini, P Moens, B Perdu, ... The Journal of clinical investigation 117 (4), 919-930, 2007 | 239 | 2007 |
| Impaired gastric acidification negatively affects calcium homeostasis and bone mass T Schinke, AF Schilling, A Baranowsky, S Seitz, RP Marshall, T Linn, ... Nature medicine 15 (6), 674-681, 2009 | 214 | 2009 |
| Molecular Cloning of ILP-2, a Novel Member of the Inhibitor of Apoptosis Protein Family BWM Richter, SS Mir, LJ Eiben, J Lewis, SB Reffey, A Frattini, L Tian, ... Molecular and cellular biology 21 (13), 4292-4301, 2001 | 159 | 2001 |
| Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement A Pangrazio, PL Poliani, A Megarbane, G Lefranc, E Lanino, M Di Rocco, ... Journal of Bone and Mineral Research 21 (7), 1098-1105, 2006 | 135 | 2006 |
| TCIRG1‐dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA L Susani, A Pangrazio, C Sobacchi, A Taranta, G Mortier, R Savarirayan, ... Human mutation 24 (3), 225-235, 2004 | 129 | 2004 |
| Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA E Revenkova, ML Focarelli, L Susani, M Paulis, MT Bassi, L Mannini, ... Human molecular genetics 18 (3), 418-427, 2009 | 125 | 2009 |
| High variability of genomic instability and gene expression profiling in different HeLa clones A Frattini, M Fabbri, R Valli, E De Paoli, G Montalbano, L Gribaldo, ... Scientific reports 5 (1), 1-9, 2015 | 116 | 2015 |
| In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis … C Panaroni, R Gioia, A Lupi, R Besio, SA Goldstein, J Kreider, S Leikin, ... Blood, The Journal of the American Society of Hematology 114 (2), 459-468, 2009 | 107 | 2009 |
| Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone AN Smith, S Bord, KJ Borthwick, RS Al-Lamki, CA Wagner, DC Ireland, ... Journal of the American society of nephrology 16 (5), 1245-1256, 2005 | 102 | 2005 |
| Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7 E Maestrini, C Patrosso, M Mancini, S Rivella, M Rocchi, M Repetto, ... Human molecular genetics 2 (6), 761-766, 1993 | 101 | 1993 |
| Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. A Villa, LD Notarangelo, JP Di Santo, PP Macchi, D Strina, A Frattini, ... Proceedings of the National Academy of Sciences 91 (6), 2110-2114, 1994 | 100 | 1994 |
| Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations A Pangrazio, M Pusch, E Caldana, A Frattini, E Lanino, PM Tamhankar, ... Human mutation 31 (1), E1071-E1080, 2010 | 96 | 2010 |
