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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 |
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron MA Melis, M Cau, R Congiu, G Sole, S Barella, A Cao, M Westerman, ... haematologica 93 (10), 1473-1479, 2008 | 240 | 2008 |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations A Figus, A Angius, G Loudianos, C Bertini, V Dessì, A Loi, M Deiana, ... American journal of human genetics 57 (6), 1318, 1995 | 224 | 1995 |
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy V Orrù, M Steri, C Sidore, M Marongiu, V Serra, S Olla, G Sole, S Lai, ... Nature genetics 52 (10), 1036-1045, 2020 | 219 | 2020 |
IRAK-M is involved in the pathogenesis of early-onset persistent asthma L Balaci, MC Spada, N Olla, G Sole, L Loddo, F Anedda, S Naitza, ... The American Journal of Human Genetics 80 (6), 1103-1114, 2007 | 201 | 2007 |
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function L Arnaud-Lopez, G Usala, G Ceresini, BD Mitchell, MG Pilia, MG Piras, ... The American Journal of Human Genetics 82 (6), 1270-1280, 2008 | 161 | 2008 |
Immune reaction against the cytoskeleton in coeliac disease MG Clemente, MP Musu, F Frau, G Brusco, G Sole, GR Corazza, ... Gut 47 (4), 520-526, 2000 | 115 | 2000 |
Enterocyte actin autoantibody detection: a new diagnostic tool in celiac disease diagnosis: results of a multicenter study MG Clemente, MP Musu, R Troncone, U Volta, M Congia, C Ciacci, E Neri, ... Official journal of the American College of Gastroenterology| ACG 99 (8 …, 2004 | 83 | 2004 |
Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma A Angius, P Spinelli, G Ghilotti, G Casu, G Sole, A Loi, A Totaro, L Zelante, ... Archives of Ophthalmology 118 (5), 674-679, 2000 | 70 | 2000 |
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. C Rozzo, M Fossarello, G Galleri, G Sole, A Serru, N Orzalesi, A Serra, ... Human Mutation 12 (3), 215-216, 1998 | 67 | 1998 |
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. C Rozzo, M Fossarello, G Galleri, G Sole, A Serru, N Orzalesi, A Serra, ... Human Mutation 12 (3), 215-216, 1998 | 67 | 1998 |
A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia A Angius, E De Gioia, A Loi, M Fossarello, G Sole, N Orzalesi, F Grignolo, ... Archives of Ophthalmology 116 (6), 793-797, 1998 | 64 | 1998 |
AHSP expression in beta-thalassemia carriers with thalassemia intermedia phenotype L Perseu, N Giagu, G Sole, C Perra Blood 102 (11), 516A-516A, 2003 | 47 | 2003 |
AHSP expression in beta-thalassemia carriers with thalassemia intermedia phenotype L Perseu, N Giagu, G Sole, C Perra Blood 102 (11), 516A-516A, 2003 | 47 | 2003 |
Impact of cattle on the prevalence and severity of trachoma. G De Sole British Journal of Ophthalmology 71 (11), 873-876, 1987 | 46 | 1987 |
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome M Cau, M Addis, R Congiu, C Meloni, A Cao, S Santaniello, M Loi, ... Journal of human genetics 51 (11), 1030-1036, 2006 | 43 | 2006 |
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region V Latini, G Sole, S Doratiotto, D Poddie, M Memmi, L Varesi, G Vona, ... European journal of human genetics 12 (8), 613-619, 2004 | 27 | 2004 |
Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia R Frigerio, G Sole, M Lovicu, G Passiu Haematologica 79 (4), 319-321, 1994 | 24 | 1994 |
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity C Sidore, V Orrù, E Cocco, M Steri, JRJ Inshaw, M Pitzalis, A Mulas, ... Multiple Sclerosis Journal 27 (9), 1332-1340, 2021 | 18 | 2021 |