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Publications en 2019

Peer-reviewed publications in International Journals

[2-DCB19]

Pathologic up-regulation of TNFSF15–TNFRSF25 axis sustains endothelial dysfunction in unprovoked venous thromboembolism

Silvia Della Bella, Francesca Calcaterra, Monica Bacci, Claudia Carenza, Chiara Pandolfo, Paola Ferrazzi, Paolo Uva, Massimiliano Pagani, Corrado Lodigiani, Domenico Mavilio

Cardiovascular research - may 2019 doi: 10.1093/cvr/cvz131

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-UAF19]

VariantAlert: A tool to notify updates in genetic variant annotations

Paolo Uva, Rossano Atzeni, Giorgio Fotia

Poster - Congresso Nazionale SIGU - 2019

[6-FUF19]

I FAIR the Sardinian way to support and fund Indipendent clinical studies that want to be Findable, Accessible, Interoperable, and Reusable

Francesca Frexia, Paolo Uva, Giorgio Fotia, Gianluigi Zanetti, Ernesto D`Aloja, Franco Cappai, Caterina Carboni

Abstract - 2019

[6-FMU19]

Open standards for semantic interoperability of clinical and genomic data: a proof-of-concept bridging openEHR, Phenopacket and FHIR

Francesca Frexia, Cecilia Mascia, Paolo Uva, Luca Lianas, Giovanni Delussu, Gianluigi Zanetti, Heather Leslie, Silje Ljosland Bakke, Ian McNicoll, Gideon Giacomelli, Diego Boscà

Poster - Poster - GA4GH Plenary Meeting - october 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-UMF19]

Open issues in genomics data management

Paolo Uva, Cecilia Mascia, Francesca Frexia, Gianluigi Zanetti

Oral presentation at openEHR for clinical research applications workshop, Pula, Cagliari, June 5, 2019 - june 2019

[6-UVA19]

Analisi e interpretazione dati nella Genomica Clinica

Paolo Uva

Relatore al corso di formazione Analisi e interpretazione dati nella genomica clinica, Bari, 3 giugno 2019 - june 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

[6-GGC19]

ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1

Alice Grossi, R Garbarino, Roberta Caorsi, Roberto Cusano, Marta Rusmini, F Penco, Francesca Schena, A Podda, Paolo Uva, Isabella Ceccherini, Marco Gattorno

Poster presentation at 10th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases, Genoa-Italy, 31 march-3 April 2019 - march 2019

[6-UVA19]

Nuove prospettive per lo studio dei tumori: la biopsia liquida

Paolo Uva

Relatore al convegno Malattie Rare, Cagliari, 3 marzo 2019 - march 2019

Publications en 2018

Peer-reviewed publications in International Journals

[2-C.U18]

Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa

Francesca Cianfarani, ..., Paolo Uva, . ...

Matrix Biology vol. In press - 2018 doi: doi.org/10.1016/j.matbio.2018.12.001

[2-MUL18]

OpenEHR modeling for genomics in clinical practice

Cecilia Mascia, Paolo Uva, Simone Leo, Gianluigi Zanetti

International Journal of Medical Informatics Elsevier pages 147 - 156 vol. 120 - october 2018
issn: 1386-5056 doi: 10.1016/j.ijmedinf.2018.10.007

[2-PZP18]

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, ..., Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

Bone - june 2018 doi: 10.1016/j.bone.2018.06.013

[2-U L18]

miRNA-135b Contributes to Triple Negative Breast Cancer Molecular Heterogeneity: Different Expression Profile in Basal-like Versus non-Basal-like Phenotypes

Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Giovanna Pira, Luciano Murgia, Sandra Orrù, Matteo Floris, Maria Rosaria Muroni, Francesca Sanges, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

International Journal of Medical Sciences - march 2018 doi: 10.7150/ijms.23402

[2-CCC18]

Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome

Karla Cervantes-Luevano, Nicoletta Caronni, Maria Carmina Castiello, ..., Paolo Uva, Marita Bosticardo, . ..., Alessandro Aiuti, Anna Villa, Federica Benvenuti

Journal of Allergy and Clinical Immunology - february 2018 doi: 10.1016/j.jaci.2017.11.063

[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

[2-CR.18]

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

Roberta Caorsi, Marta Rusmini, ..., Paolo Uva, . ..., Isabella Ceccherini, Marco Gattorno

Frontiers In Immunology - january 2018 doi: doi.org/10.3389/fimmu.2017.02015

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

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