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Publications de Uva au CRS4

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Publications en 2015

Peer-reviewed publications in International Journals

[2-I.C15]

Tools and data services registry: a community effort to document bioinformatics resources

John Ison, ..., Gianmauro Cuccuru, Paolo Uva, Brunak Soren

Nucleic Acid Research - 2015 doi: 10.1093/nar/gkv1116

[2-PCS15]

Chromosome transplantation as a novel approach for correcting complex genomic disorders

Marianna Paulis, Alessandra Castelli, Lucia Susani, Michela Lizier, Irina Lagutina, Maria Luisa Focarelli, Camilla Recordati, Paolo Uva, Francesca Faggioli, Tui Neri, Eugenio Scanziani, Cesare Galli, Franco Lucchini, Anna Villa, Paolo Vezzoni

Oncotarget pages 35218-35230 vol. 6(34) - november 2015 doi: 10.18632/oncotarget.6143

[2-CSP15]

B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome

Maria Carmina Castiello, Samantha Scaramuzzi, Francesca Pala, Francesca Ferrua, Paolo Uva, Immacolata Brigida, Lucia Sereni, Mirjam van der Burg, Giorgio Ottaviano, Michael H. Albert, Maria Grazia Roncarolo, Luigi Naldini, Alessandro Aiuti, Anna Villa, Marita Bosticardo

Journal of Allergy and Clinical Immunology num. 3 - march 2015 doi: 10.1016/j.jaci.2015.01.035

[2-CZL15]

Pathway-Based Analysis of Genome-Wide siRNA Screens Reveals the Regulatory Landscape of App Processing

Luiz Miguel Camargo, Xiaohua Douglas Zhang, Patrick Loerch, Ramon Miguel Caceres, Shane Marine, Paolo Uva, Marc Ferrer, Emanuele de Rinaldis, David Stone, John Majercak, William Ray, Chen Yi-An, Mark Shearman, Kenji Mizuguchi

PLoS ONE pages e0115369 - february 2015 doi: 10.1371/journal.pone.0115369

Various talks, works and publications

[6-CUO15]

Exploiting a large scale biodata management system to support NGS variant detection studies

Gianmauro Cuccuru, Paolo Uva, Stefano Onano, Rossano Atzeni, Simone Leo, Luca Lianas, Manuela Oppo, Luca Pireddu, Andrea Angius, Laura Crisponi, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at ISMB/ECCB, 10-14 July 2015, Dublin - 2015

[6-PCS15]

Chromosome transplantation: a novel strategy for correcting genomic disorders resistant to classical gene therapy approaches

Marianna Paulis, Alessandra Castelli, Lucia Susani, Michela Lizier, Irina Lagutina, Camilla Recordati, Paolo Uva, Francesca Faggioli, Tui Neri, Eugenio Scanziani, Cesare Galli, Franco Lucchini, Anna Villa, Paolo Vezzoni

Poster presentation at ISSCR Annual Meeting 2015, 24-27 June, Stockolm - 2015

[6-CLL15]

Combining enabling technologies to build the largest NGS core facility in Italy

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Massimiliano Orsini, Luca Pireddu, Andrea Sbardellati, Rossano Atzeni, Roberto Cusano, Manuela Oppo, Paolo Uva, Andrea Angius, Gianluigi Zanetti, Giorgio Fotia

Invited presentation to Biodata World Congress 2015, Hinxton, Cambridge, UK - 21-22 October - 2015 - 2015

[6-UVA15]

Workflow nell’analisi SGS: allineamento e chiamata delle varianti

Paolo Uva

Comunicazione orale al XVIII Congresso Nazionale SIGU, Rimini - october 2015

[6-UPO15]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Paolo Uva, Alessandro Puddu, Manuela Oppo, Stefano Onano, Loredana Marcia, Manila Deiana, Angela Loi, Mara Marongiu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius, Laura Crisponi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

[6-PSM15]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

[6-CAF15]

A Galaxy based infrastructure

Gianmauro Cuccuru, Rossano Atzeni, Giorgio Fotia, Paolo Uva, Gianluigi Zanetti

Oral presentation at ELIXIR All hands meeting - Hinxton - march 2015

Publications en 2014

Peer-reviewed publications in International Journals

[2-COP14]

Orione, a web-based framework for NGS analysis in microbiology

Gianmauro Cuccuru, Massimiliano Orsini, Andrea Pinna, Andrea Sbardellati, Nicola Soranzo, Antonella Travaglione, Paolo Uva, Gianluigi Zanetti, Giorgio Fotia

Bioinformatics Oxford University Press pages 1928-1929 vol. 30 num. 13 - 2014 doi: 10.1093/bioinformatics/btu135

[2-ODO14]

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity

Teresa Odorisio, Michela Di Salvio, Angela Orecchia, Giovanni Di Zenzo, Eugenia Piccinni, Francesca Cianfarani, Antonella Travaglione, Paolo Uva, Barbara Bellei, Andrea Conti, Giovanna Zambruno, Daniele Castiglia

Human Molecular Genetics vol. Mar 5 - 2014 doi: 10.1093/hmg/ddu102

[2-PBU14]

Kinase domain-targeted isolation of defense-related receptor-like kinases (RLK/Pelle) in Platanus x acerifolia: phylogenetic and structural analysis

Massimo Pilotti, Angela Brunetti, Paolo Uva, Valentina Lumia, Lorenza Tizzani, Fabio Gervasi, Michele Iacono, Massimo Pindo

BMC Plant Biology pages 884 vol. 7 num. 1 - december 2014 doi: 10.1186/1756-0500-7-884

Peer-reviewed publications in international events

[4-CLL14]

An Automated Infrastructure to Support High-throughput Bioinformatics

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Michele Muggiri, Andrea Pinna, Luca Pireddu, Paolo Uva, Andrea Angius, Giorgio Fotia, Gianluigi Zanetti

Proc. IEEE International Conference on High Performance Computing & Simulation (HPCS 2014) IEEE pages 600-607 Smari, Waleed W. and Zeljkovic, Vesna Eds. - july 2014
isbn: 978-1-4799-5313-4 doi: 10.1109/HPCSim.2014.6903742

Various talks, works and publications

[6-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, Chiara Perria, Valentina Pes, Gigliola Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

[6-CUO14]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

Publications en 2013

Peer-reviewed publications in International Journals

[2-UDD13]

Rat mir-155 generated from the lncRNA Bic is hidden in the alternate genomic assembly and reveals the existence of novel mammalian miRNAs and clusters

Paolo Uva, Letizia Da Sacco, Manuela Del Cornò, Antonella Baldassarre, Paola Sestili, Massimiliano Orsini, Alessia Palma, Sandra Gessani, Andrea Masotti

RNA pages 365-379 vol. 19 num. 3 - 2013 doi: 10.1261/rna.035394.112

[2-OCC13]

The PARIGA Server for Real Time Filtering and Analysis of Reciprocal BLAST Results

Massimiliano Orsini, Simone Carcangiu, Gianmauro Cuccuru, Paolo Uva, Anna Tramontano

PLoS ONE Public Library of Science pages e62224 vol. 8 num. 5 - 2013 doi: 10.1371/journal.pone.0062224

Afficher toute la liste (133 publications) Download the selection

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