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Publications en 2021

Various talks, works and publications

[6-MCA21]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Python Programming Language for Biotech

Gianmauro Cuccuru, Rossano Atzeni

- september 2018

Publications en 2017

Peer-reviewed publications in International Journals

[2-CAO17]

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]

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]

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]

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]

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]

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]

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]

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]

Galaxy for Bioinformatics tool developers - training course material

Rossano Atzeni, Marco Antonio Tangaro, Gianmauro Cuccuru, Paolo Uva

BITS http://bioinformatics.it/ - july 2017

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