| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ... The American Journal of Human Genetics 80 (3), 485-494, 2007 | 602 | 2007 |
| X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations A Musio, A Selicorni, ML Focarelli, C Gervasini, D Milani, S Russo, ... Nature genetics 38 (5), 528-530, 2006 | 510 | 2006 |
| 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 |
| Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities NR Forsyth, A Musio, P Vezzoni, AHRW Simpson, BS Noble, JIM McWhir Cloning and stem cells 8 (1), 16-23, 2006 | 247 | 2006 |
| Mutation Spectrum and Genotype–Phenotype Correlation in C ornelia de L ange Syndrome L Mannini, F Cucco, V Quarantotti, ID Krantz, A Musio Human mutation 34 (12), 1589-1596, 2013 | 217 | 2013 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 178 | 2014 |
| 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 |
| SMC1 involvement in fragile site expression A Musio, C Montagna, T Mariani, M Tilenni, ML Focarelli, L Brait, E Indino, ... Human molecular genetics 14 (4), 525-533, 2005 | 108 | 2005 |
| The Coffin–Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases SA Schrier, JN Bodurtha, B Burton, AE Chudley, MAD Chiong, ... American Journal of Medical Genetics Part A 158 (8), 1865-1876, 2012 | 97 | 2012 |
| Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts A Musio, C Montagna, D Zambroni, E Indino, O Barbieri, L Citti, A Villa, ... Cancer research 63 (11), 2855-2863, 2003 | 81 | 2003 |
| Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease L Mannini, J Liu, ID Krantz, A Musio Human mutation 31 (1), 5-10, 2010 | 77 | 2010 |
| Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero A Frattini, HC Blair, MG Sacco, F Cerisoli, F Faggioli, EM Catò, ... Proceedings of the National Academy of Sciences 102 (41), 14629-14634, 2005 | 76 | 2005 |
| Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach P Sarogni, MM Pallotta, A Musio Journal of medical genetics 57 (5), 289-295, 2020 | 74 | 2020 |
| A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity P Morciano, C Carrisi, L Capobianco, L Mannini, G Burgio, G Cestra, ... Human Molecular Genetics 18 (21), 4180-4188, 2009 | 67 | 2009 |
| Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes A Latorre-Pellicer, Á Ascaso, L Trujillano, M Gil-Salvador, M Arnedo, ... International journal of molecular sciences 21 (3), 1042, 2020 | 59 | 2020 |
| The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer L Mannini, S Menga, A Musio Human mutation 31 (6), 623-630, 2010 | 59 | 2010 |
| Clinical utility gene card for: Cornelia de Lange syndrome FJ Ramos, B Puisac, C Baquero-Montoya, MC Gil-Rodríguez, I Bueno, ... European Journal of Human Genetics 23 (10), 1431-1431, 2015 | 56 | 2015 |
| Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes A Gimigliano, L Mannini, L Bianchi, M Puglia, MA Deardorff, S Menga, ... Journal of Proteome Research 11 (12), 6111-6123, 2012 | 46 | 2012 |
| Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome L Mannini, F C. Lamaze, F Cucco, C Amato, V Quarantotti, IM Rizzo, ... Scientific reports 5 (1), 16803, 2015 | 45 | 2015 |
| Longitudinal patterns similar to G-banding in untreated human chromosomes: evidence from atomic force microscopy A Musio, T Mariani, C Frediani, I Sbrana, C Ascoli Chromosoma 103 (3), 225-229, 1994 | 42 | 1994 |
