| A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing … FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ... Journal of medical genetics 42 (7), 588-594, 2005 | 372 | 2005 |
| DisProt 7.0: a major update of the database of disordered proteins D Piovesan, F Tabaro, I Mičetić, M Necci, F Quaglia, CJ Oldfield, ... Nucleic acids research 45 (D1), D219-D227, 2017 | 330 | 2017 |
| A genotype-phenotype correlation for GJB2 (connexin 26) deafness K Cryns, E Orzan, A Murgia, PLM Huygen, F Moreno, I Del Castillo, ... Journal of medical genetics 41 (3), 147-154, 2004 | 317 | 2004 |
| DisProt: intrinsic protein disorder annotation in 2020 A Hatos, B Hajdu-Soltész, AM Monzon, N Palopoli, L Álvarez, ... Nucleic acids research 48 (D1), D269-D276, 2020 | 245 | 2020 |
| Cx26 deafness: mutation analysis and clinical variability A Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, ... Journal of medical genetics 36 (11), 829-832, 1999 | 209 | 1999 |
| DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation F Quaglia, B Mészáros, E Salladini, A Hatos, R Pancsa, LB Chemes, ... Nucleic acids research 50 (D1), D480-D487, 2022 | 135 | 2022 |
| INGA: protein function prediction combining interaction networks, domain assignments and sequence similarity D Piovesan, M Giollo, E Leonardi, C Ferrari, SCE Tosatto Nucleic acids research 43 (W1), W134-W140, 2015 | 94 | 2015 |
| Fly cryptochrome and the visual system G Mazzotta, A Rossi, E Leonardi, M Mason, C Bertolucci, L Caccin, ... Proceedings of the National Academy of Sciences 110 (15), 6163-6168, 2013 | 78 | 2013 |
| Connexin 26 35delG does not represent a mutational hotspot CR Rothrock, A Murgia, EL Sartorato, E Leonardi, S Wei, SL Lebeis, ... Human genetics 113, 18-23, 2003 | 74 | 2003 |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing MC Aspromonte, M Bellini, A Gasparini, M Carraro, E Bettella, R Polli, ... Human mutation 40 (9), 1346-1363, 2019 | 72 | 2019 |
| Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation P Striano, G Busolin, L Santulli, E Leonardi, A Coppola, L Vitiello, L Rigon, ... Neurology 76 (13), 1173-1176, 2011 | 61 | 2011 |
| Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) R Pourova, P Janoušek, M Jurovčík, M Dvořáková, M Malíková, ... Annals of human genetics 74 (4), 299-307, 2010 | 51 | 2010 |
| A computational model of the LGI1 protein suggests a common binding site for ADAM proteins E Leonardi, S Andreazza, S Vanin, G Busolin, C Nobile, SCE Tosatto PLoS One 6 (3), e18142, 2011 | 50 | 2011 |
| Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges R Daneshjou, Y Wang, Y Bromberg, S Bovo, PL Martelli, G Babbi, ... Human mutation 38 (9), 1182-1192, 2017 | 49 | 2017 |
| A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis E Benetti, G Caridi, C Malaventura, M Dagnino, E Leonardi, L Artifoni, ... Clinical Journal of the American Society of Nephrology 5 (4), 698-702, 2010 | 49 | 2010 |
| VHLdb: A database of von Hippel-Lindau protein interactors and mutations F Tabaro, G Minervini, F Sundus, F Quaglia, E Leonardi, D Piovesan, ... Scientific Reports 6 (1), 31128, 2016 | 46 | 2016 |
| BOOGIE: predicting blood groups from high throughput sequencing data M Giollo, G Minervini, M Scalzotto, E Leonardi, C Ferrari, SCE Tosatto PLoS One 10 (4), e0124579, 2015 | 42 | 2015 |
| Adding structural information to the von Hippel–Lindau (VHL) tumor suppressor interaction network E Leonardi, A Murgia, SCE Tosatto FEBS letters 583 (22), 3704-3710, 2009 | 37 | 2009 |
| A novel SACS mutation results in non‐ataxic spastic paraplegia and peripheral neuropathy E Gregianin, G Vazza, E Scaramel, F Boaretto, A Vettori, E Leonardi, ... European Journal of Neurology 20 (11), 1486-1491, 2013 | 34 | 2013 |
| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy L Bello, P Melacini, R Pezzani, A D'amico, L Piva, E Leonardi, A Torella, ... European journal of human genetics 20 (12), 1234-1239, 2012 | 33 | 2012 |
Silvio TosattoFull Professor of Bioinformatics, Department of Biomedical Sciences, University of Padua在 unipd.it 的电子邮件经过验证
