| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single … M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ... Medicine 82 (3), 203-215, 2003 | 402 | 2003 |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ... Nature genetics 26 (1), 103-105, 2000 | 398 | 2000 |
| Overexpression of the cytokine BAFF and autoimmunity risk M Steri, V Orrù, ML Idda, M Pitzalis, M Pala, I Zara, C Sidore, V Faà, ... New England Journal of Medicine 376 (17), 1615-1626, 2017 | 379 | 2017 |
| Genetic variants regulating immune cell levels in health and disease V Orrù, M Steri, G Sole, C Sidore, F Virdis, M Dei, S Lai, M Zoledziewska, ... Cell 155 (1), 242-256, 2013 | 368 | 2013 |
| Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny P Francalacci, L Morelli, A Angius, R Berutti, F Reinier, R Atzeni, R Pilu, ... Science 341 (6145), 565-569, 2013 | 216 | 2013 |
| Identification of a SUFU germline mutation in a family with Gorlin syndrome L Pastorino, P Ghiorzo, S Nasti, L Battistuzzi, R Cusano, C Marzocchi, ... American journal of medical genetics Part A 149 (7), 1539-1543, 2009 | 214 | 2009 |
| Gut microbiota markers associated with obesity and overweight in Italian adults V Palmas, S Pisanu, V Madau, E Casula, A Deledda, R Cusano, P Uva, ... Scientific reports 11 (1), 5532, 2021 | 206 | 2021 |
| Gut microbiota and metabolome alterations associated with Parkinson’s disease S Vascellari, V Palmas, M Melis, S Pisanu, R Cusano, P Uva, D Perra, ... Msystems 5 (5), 10.1128/msystems. 00561-20, 2020 | 153 | 2020 |
| Preserved speech variant is allelic of classic Rett syndrome C De Bona, M Zappella, G Hayek, I Meloni, F Vitelli, M Bruttini, R Cusano, ... European Journal of Human Genetics 8 (5), 325-330, 2000 | 152 | 2000 |
| Genetic mapping to 10q23. 3-q24. 2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy M Seri, R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, ... The American Journal of Human Genetics 64 (2), 586-593, 1999 | 124 | 1999 |
| Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR G Patrone, F Puppo, R Cusano, M Scaranari, I Ceccherini, A Puliti, ... Biotechniques 29 (5), 1012-1017, 2000 | 117 | 2000 |
| Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy C Wallgren-Pettersson, K Pelin, P Hilpelä, K Donner, B Porfirio, ... Neuromuscular Disorders 9 (8), 564-572, 1999 | 108 | 1999 |
| Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome F De Benedetti, A Insalaco, A Diamanti, E Cortis, F Muratori, A Lamioni, ... Clinical Gastroenterology and Hepatology 4 (5), 653-659, 2006 | 79 | 2006 |
| Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients L Pastorino, R Cusano, S Nasti, F Faravelli, F Forzano, C Baldo, M Barile, ... Human mutation 25 (3), 322-323, 2005 | 66 | 2005 |
| KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation R Littera, G Piredda, D Argiolas, S Lai, E Congeddu, P Ragatzu, M Melis, ... PLoS One 12 (7), e0180831, 2017 | 65 | 2017 |
| A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree C Marconi, P Brunamonti Binello, G Badiali, E Caci, R Cusano, ... European Journal of Human Genetics 21 (6), 613-619, 2013 | 65 | 2013 |
| Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene M Seri, M Savino, D Bordo, R Cusano, B Rocca, I Meloni, F Bari, ... Human genetics 110, 182-186, 2002 | 64 | 2002 |
| Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and … G Gimelli, S Giglio, O Zuffardi, L Alhonen, S Suppola, R Cusano, ... Human genetics 111, 235-241, 2002 | 58 | 2002 |
| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism E Panza, JM Escamilla-Honrubia, C Marco-Marín, N Gougeard, ... Brain 139 (1), e3-e3, 2016 | 56 | 2016 |
| Impact of a moderately hypocaloric Mediterranean diet on the gut microbiota composition of Italian obese patients S Pisanu, V Palmas, V Madau, E Casula, A Deledda, R Cusano, P Uva, ... Nutrients 12 (9), 2707, 2020 | 54 | 2020 |
Marco SeriProfessore di Genetica Medica, Università di BolognaE-mail confirmado em unibo.it
