Alessandro Sulis, Vittorio Meloni, Cecilia Mascia, Franco Cappai, Caterina G. Carboni, Ernesto D`Aloja, Giorgio Fotia, Giuseppe Serra, Giovanni Sotgiu, Paolo Uva, Francesca Frexia, Gianluigi Zanetti

Conferenza GARR 2021 - Sostenibile/Digitale - Selected Papers pages 81-87 - june 2021
isbn: 978-88-946629-0-0 doi: 10.26314/GARR-Conf21-proceedings-17

Various talks, works and publications

[6-SMM21]

Integrazione dei Principi FAIR nel processo di ricerca biomedica: la creazione del Registro della Regione Sardegna

Alessandro Sulis, Vittorio Meloni, Cecilia Mascia, Franco Cappai, Caterina Giorgia Carboni, Ernesto D`Aloja, Giorgio Fotia, Giuseppe Serra, Giovanni Sotgiu, Paolo Uva, Francesca Frexia, Gianluigi Zanetti

Selected Papers - Presentation at the Conferenza GARR 2021 - Sostenibile/Digitale - 2021

[6-MCA21]

Bioinformatic NGS data analysis with solida-core

Matteo Massidda, Gianmauro Cuccuru, Rossano Atzeni, Rajesh Pal, Paolo Uva, Giorgio Fotia

Poster - - august 2021

[6-AMF21]

VariantAlert: a free service to notify updates in genetic variant annotations

Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva

Poster - - august 2021

Publications en 2020

Peer-reviewed publications in International Journals

[2-PCU20]

Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients

Silvia Pisanu, Roberto Cusano, Paolo Uva, Sarah Vascellari, et al.

Nutrients pages 2707 vol. 12 num. 9 - 2020 doi: 10.3390/nu12092707

[2-AMM20]

Genome Sequence of Beauveria bassiana Strain ATCC 74040, a Widely Employed Insect Pathogen

Rossano Atzeni, Gabriele Moro, Maria Giovanna Marche, Paolo Uva, Luca Ruiu

Microbiology Resource Announcements pages 23 num. 9 - june 2020 doi: 10.1128/MRA.00446-20

Peer-reviewed publications in international events

[4-MFU20]

The openEHR Genomics Project

Cecilia Mascia, Francesca Frexia, Paolo Uva, Gianluigi Zanetti, Luca Pireddu, Gideon Giacomelli, Christina Jaeger-Schmidt, Aurelie Tomczak, Simon Schumacher, Florian Kraecher, Roland Eils, Silje Ljosland Bakke, Heather Leslie

Digital Personalized Health and Medicine - Proceedings of MIE 2020 IOS Press Studies in Health Technology and Informatics pages 443 - 447 vol. Volume 270 European Federation for Medical Informatics (EFMI) - 2020 doi: 10.3233/SHTI200199

Various talks, works and publications

[6-MPU20]

GENE MUTATIONS ANALYSIS AND NEW INSIGHTS IN CHRONIC LYMPHOCYTIC LEUKEMIA (CLL): PRELIMINARY RESULTS FROM A CLINICAL RESEARCH PROJECT BASED ON NEXT GENERATION SEQUENCING (NGS)

Roberta Murru, Giovanna Piras, Sabrina Uda, Maria Monne, Andrea Galitzia, Paolo Uva, Roberto Cusano, Rosanna Asproni, Marco Murineddu, Fabio Culurgioni, Antonella Uras, Sara Cardani, Alessandro Bianchi, Donatella Pulisci, Silvana Urru, Gabriella Loghi, Igor Tandurella, Matteo Massidda, Erika Lutzu, Angelo Domenico Palmas, Emanuele Angelucci, G La Nasa

Poster - - june 2020

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-CMU19]

MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation

Laura Crisafulli, Sharon Muggeo, Paolo Uva, Yulei Wang, ..., Anna Villa, Bernhard Gentner, Francesca Ficara

Haematologica - 2019 doi: 10.3324/haematol.2018.198499

[2-GCR19]

ADA2 deficiency due to a novel structural variation in 22q11.1

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

Clinical Genetics - 2019

[2-AUP19]

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

Andrea Angius, Paolo Uva, Giovanna Pira, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Molecular Sciences pages 4067 vol. 20 num. 16 - 2019 doi: 10.3390/ijms20164067

[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

[2-APS19]

MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers

Andrea Angius, Giovanna Pira, Antonio Scanu, Paolo Uva, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Medical Sciences - 2019 doi: 10.7150/ijms.35269

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