CRS4

Publications de Cuccuru au CRS4



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Afficher toute la liste (66 publications) Download the selection
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Publications en 2021
Various talks, works and publications
[6-MCA21] [Add to your selection]
Bioinformatic NGS data analysis with solida-core
Matteo Massidda, Gianmauro Cuccuru, Rossano Atzeni, Rajesh Pal, Paolo Uva, Giorgio Fotia
Poster - - august 2021
 
Publications en 2019
Peer-reviewed publications in International Journals
[2-AUO19] [Add to your selection]
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi
BMC Medical Genetics - 2019  doi: 10.1186/s12881-019-0745-7
[2-AUO19] [Add to your selection]
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi
American Journal of Medical Genetics - 2019  doi: 10.1002/ajmg.a.61052
[2-AUO19] [Add to your selection]
Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses
Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi
Clinical Genetics - 2019  doi: 10.1111/cge.13532
Various talks, works and publications
[6-CMA19] [Add to your selection]
solida.core: an open-source and ready-to-use set of bioinformatic analysis pipelines
Gianmauro Cuccuru, Matteo Massidda, Rossano Atzeni, Paolo Uva, Giorgio Fotia
o BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - o BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - 2019
[6-CUB19] [Add to your selection]
Training experience on “Data analysis and interpretation for clinical genomics” using Galaxy
Gianmauro Cuccuru, Paolo Uva, Alessandro Bruselles, Giuseppe Marangi, Tommaso Pippucci
Poster presentation at 2019 Galaxy Community Conference (GCC2019), Freiburg, Germany, 1-6 July 2019 - july 2019
[6-CMA19] [Add to your selection]
solida.core: download, deploy and use an open-source set of bioinformatic analysis pipelines
Gianmauro Cuccuru, Matteo Massidda, Rossano Atzeni, Paolo Uva, Giorgio Fotia
ISMB/ECCB 2019 Basel, Switzerland July 21 - July 25 - ISMB/ECCB 2019 Basel, Switzerland July 21 - July 25 - july 2019
[6-ACC19] [Add to your selection]
PENELOPE: a complete Laboratory Information Management System for Next Generation Sequencing Laboratories
Rossano Atzeni, Gianmauro Cuccuru, Roberto Cusano, Paolo Uva, Giorgio Fotia
Poster - Poster presentation at BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - june 2019
 
Publications en 2018
Peer-reviewed publications in International Journals
[2-ACU18] [Add to your selection]
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
Andrea Angius, Silvia Cossu, Paolo Uva, Manuela Oppo, Stefano Onano, Ivana Persico, Giorgio Fotia, Rossano Atzeni, Gianmauro Cuccuru, M Asunis, Francesco Cucca, Dario Pruna, Laura Crisponi
Clinical Genetics - february 2018  doi: 10.1111/cge.13162
Various talks, works and publications
[6-CPA18] [Add to your selection]
SOLIDA: a simple bootstrapper for Next Generation bioinformatics pipelines
Gianmauro Cuccuru, Maurizio Polano, Rossano Atzeni, Paolo Uva, Giorgio Fotia
Poster presentation at BITS, Torino, 2018 - 2018
Internal reports
[8-CA18] [Add to your selection]
Python Programming Language for Biotech
Gianmauro Cuccuru, Rossano Atzeni
- september 2018
 
Publications en 2017
Peer-reviewed publications in International Journals
[2-CAO17] [Add to your selection]
Epileptic phenotypes related to the UNC79-UNC80- NALCN protein complex
Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Laura Crisponi, Dario Pruna
Clinical cases and reviews in epilepsy Cic pages 54 - 58 - 2017  doi: 10.11138/ccre/2017.2.1.054
[2-SOI17] [Add to your selection]
Overexpression of the Cytokine BAFF and Autoimmunity Risk
Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca
The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017  doi: 10.1056/NEJMoa1610528
Various talks, works and publications
[6-ACL17] [Add to your selection]
Integration, processing, and data analysis in the operational support of a large scale NGS core facility
Rossano Atzeni, Gianmauro Cuccuru, Luca Lianas, Ricardo Medda, Luca Pireddu, Paolo Uva, Ilenia Zara, Gianluigi Zanetti, Giorgio Fotia
Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017
[6-DOA17] [Add to your selection]
The impact of an in-house Italian exome database for variant prioritization
Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia, Paolo Uva
Oral presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017
[6-UCA17] [Add to your selection]
Impact of sample size in variant identification from exome sequencing data
Paolo Uva, Gianmauro Cuccuru, Rossano Atzeni, Gianluigi Zanetti, Giorgio Fotia
Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017
[6-ZMO17] [Add to your selection]
A tool suite for CNV analysis from whole exome sequencing data in Galaxy
Barbara Zonnedda, Ricardo Medda, Stefano Onano, Rossano Atzeni, Gianmauro Cuccuru, Giorgio Fotia, Paolo Uva
Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017
[6-ACU17] [Add to your selection]
Galaxy for Bioinformatics tool developers
Rossano Atzeni, Gianmauro Cuccuru, Paolo Uva
Training Course on Galaxy for Bioinformatics tool developers, Cagliari, July 3-5, 2017 - july 2017
[6-CAO17] [Add to your selection]
Fenotipo epilettico in due fratelli con mutazioni nel gene NALCN
Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Dario Pruna, Laura Crisponi
Poster presentation at 40 Congresso Nazionale LICE, 7-9 giugno 2017 - june 2017
Internal reports
[8-ATC17] [Add to your selection]
Galaxy for Bioinformatics tool developers - training course material
Rossano Atzeni, Marco Antonio Tangaro, Gianmauro Cuccuru, Paolo Uva
BITS http://bioinformatics.it/ - july 2017

Afficher toute la liste (66 publications) Download the selection
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