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Publications en 2020

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-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

Various talks, works and publications

[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

Publications en 2018

Various talks, works and publications

[6-C.C18]

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

Roberta Caorsi, ..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at European Paediatric Rheumatology Congress, Lisbon 2018 - 2018

[6-.CU18]

Distinct signatures of the gut microbiome in an italian cohort of patients with parkinson’s disease

..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at 46 Congresso Nazionale della Società Italiana di Microbiologia, Palermo, 26-29 settembre 2018 - september 2018

[6-DSB18]

Evaluation of miRNA expression in porcine macrophages infected by African Swine fever Virus: preliminary results

Silvia Dei Giudici, Giovanna Sanna, Franca Balzano, Roberto Cusano, Paolo Uva, Annalisa Oggiano

Poster presentation at GARA Workshop (Global African Swine Fever Research Alliance), Cagliari, April 11, 2018 - april 2018

Publications en 2017

Peer-reviewed publications in International Journals

[2-C.C17]

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

Giovanni Caocci, ..., Roberto Cusano, . ...

Leukemia research - august 2017 doi: 10.1016/j.leukres.2017.08.005

[2-L.C17]

KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation.

Roberto Littera, ..., Roberto Cusano, . ..., Carlo Carcassi

PLoS ONE - july 2017 doi: 10.1371/journal.pone.0180831

[2-P.C17]

Population- and individual-specific regulatory variation in Sardinia.

Mauro Pala, ..., Roberto Cusano, . ...

Nature Genetics - may 2017

[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-CUS17]

Next Generation Sequencing e tumore renale

Roberto Cusano

Invited speaker at: Focus sul carcinoma renale: quali novità, AO Brotzu - Cagliari, 27 settembre 2017 - september 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-CUS17]

Dal progetto Genoma alla NGS

Roberto Cusano

Oral presentation at Convegno NGS nella pratica clinica oncologica, P.O Businco, 25 May 2017, Cagliari - may 2017

Publications en 2016

Peer-reviewed publications in International Journals

[2-OCM16]

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor & Francis pages 1539-1541 vol. 27 num. 2 - 2016 doi: 10.3109/19401736.2014.953128

[2-OCM16]

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor and Francis pages 3128--3130 vol. 27 - 2016 doi: 10.3109/19401736.2015.1007297

[2-MDM16]

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Alessandra Meloni, Andrea Angius, Roberto Cusano, Angela Loi, Francesca Crobu, Giorgio Fotia, Francesco Cucca, David Schlessinger, Laura Crisponi

Developmental Biology pages 200-211 vol. 416 num. 1 - 2016 doi: 10.1016/j.ydbio.2016.05.022

[2-OCC16]

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Massimiliano Orsini, Roberto Cusano, Cristina Costelli, Veronica Malavasi, Alessandro Concas, Andrea Angius, Giacomo Cao

Mithocondrial DNA Taylor & Francis pages 838--839 vol. 27 num. 2 - may 2016
issn: 1940-1736 doi: 10.3109/19401736.2014.919466

Various talks, works and publications

[6-UDO16]

The importance of an Italian exome database for the study of rare diseases

Paolo Uva, Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia

Oral presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-CCM15]

The Role of Mathematical Modeling and Genetic Engineering for the Microalgae Based Technology

Alessandro Concas, Cristina Costelli, Veronica Malavasi, Massimiliano Orsini, Roberto Cusano, Massimo Pisu, Andrea Angius, Giacomo Cao

Chemical Engineering Transactions pages 511--516 vol. 43 - 2015 doi: 10.3303/CET1543086

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