| 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 | 377 | 2017 |
| Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore, R Murru, ... Nature genetics 42 (6), 495-497, 2010 | 230 | 2010 |
| Tools and data services registry: a community effort to document bioinformatics resources J Ison, K Rapacki, H Ménager, M Kalaš, E Rydza, P Chmura, C Anthon, ... Nucleic acids research 44 (D1), D38-D47, 2016 | 171 | 2016 |
| Orione, a web-based framework for NGS analysis in microbiology G Cuccuru, M Orsini, A Pinna, A Sbardellati, N Soranzo, A Travaglione, ... Bioinformatics 30 (13), 1928-1929, 2014 | 170 | 2014 |
| Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis E Palagano, HC Blair, A Pangrazio, I Tourkova, D Strina, A Angius, ... Journal of Bone and Mineral Research 30 (10), 1814-1821, 2015 | 52 | 2015 |
| Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ... The American Journal of Human Genetics 99 (1), 236-245, 2016 | 42 | 2016 |
| Fast low-memory streaming MLS reconstruction of point-sampled surfaces R Pajarola, G Cuccuru, E Gobbetti, F Marton, R Pintus University of Zurich, 2009 | 34 | 2009 |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report RM Alves, P Uva, MF Veiga, M Oppo, FCR Zschaber, G Porcu, HP Porto, ... BMC Medical Genetics 20, 1-7, 2019 | 22 | 2019 |
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP A Angius, P Uva, M Oppo, I Persico, S Onano, S Olla, V Pes, C Perria, ... American Journal of Medical Genetics Part A 179 (4), 634-638, 2019 | 20 | 2019 |
| Genome-wide association study of susceptibility loci for breast cancer in Sardinian population G Palomba, A Loi, E Porcu, A Cossu, I Zara, M Budroni, M Dei, S Lai, ... BMC cancer 15, 1-10, 2015 | 18 | 2015 |
| Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome A Angius, S Cossu, P Uva, M Oppo, S Onano, I Persico, G Fotia, R Atzeni, ... Clinical genetics 93 (6), 1245-1247, 2018 | 17 | 2018 |
| BioBlend. objects: metacomputing with Galaxy S Leo, L Pireddu, G Cuccuru, L Lianas, N Soranzo, E Afgan, G Zanetti Bioinformatics 30 (19), 2816-2817, 2014 | 16 | 2014 |
| An automated infrastructure to support high-throughput bioinformatics G Cuccuru, S Leo, L Lianas, M Muggiri, A Pinna, L Pireddu, P Uva, ... 2014 International Conference on High Performance Computing & Simulation …, 2014 | 13 | 2014 |
| Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses A Angius, P Uva, M Oppo, I Buers, I Persico, S Onano, G Cuccuru, ... Clinical Genetics 95 (5), 607-614, 2019 | 9 | 2019 |
| Training infrastructure as a service H Rasche, C Hyde, J Davis, S Gladman, N Coraor, A Bretaudeau, ... GigaScience 12, giad048, 2023 | 5 | 2023 |
| Bacterial genomic data analysis in the next-generation sequencing era M Orsini, G Cuccuru, P Uva, G Fotia Data Mining Techniques for the Life Sciences, 407-422, 2016 | 5 | 2016 |
| Expanding the Galaxy’s reference data N VijayKrishna, J Joshi, N Coraor, J Hillman-Jackson, D Bouvier, ... Bioinformatics Advances 2 (1), vbac030, 2022 | 2 | 2022 |
| Simulating cardiac electrophysiology using unstructured all-hexahedra spectral elements G Cuccuru, G Fotia, F Maggio, J Southern BioMed research international 2015, 2015 | 2 | 2015 |
| Automated and traceable processing for large-scale high-throughput sequencing facilities L Pireddu, G Cuccuru, L Lianas, M Vocale, G Fotia, G Zanetti EMBnet. journal 19 (A), 23-24, 2013 | 2 | 2013 |
| The PARIGA server for real time filtering and analysis of reciprocal BLAST results M Orsini, S Carcangiu, G Cuccuru, P Uva, A Tramontano Plos one 8 (5), e62224, 2013 | 1 | 2013 |
Paolo UvaClinical Bioinformatics Unit, IRCCS G. Gaslini, Genoa, ItalyVerified email at gaslini.org
