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Publications in 2017

Various talks, works and publications

[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 in 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 in 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

[2-RZH15]

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Frederic Reinier, Magdalena Zoledziewska, David Hanna, Josh D Smith, Maria Valentini, Ilenia Zara, Riccardo Berutti, Serena Sanna, Manuela Oppo, Roberto Cusano, Rosanna Satta, Maria Antonietta Montesu, Christopher M. S. Jones, Decio Cerimele, Debby A. Nickerson, Andrea Angius, Francesco Cucca, F. Cottoni, Laura Crisponi

Metabolism - 2015 doi: 10.1016/j.metabol.2015.07.022 Share on mendeley

Various talks, works and publications

[6-CLL15]

Combining enabling technologies to build the largest NGS core facility in Italy

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Massimiliano Orsini, Luca Pireddu, Andrea Sbardellati, Rossano Atzeni, Roberto Cusano, Manuela Oppo, Paolo Uva, Andrea Angius, Gianluigi Zanetti, Giorgio Fotia

Invited presentation to Biodata World Congress 2015, Hinxton, Cambridge, UK - 21-22 October - 2015 - 2015

Publications in 2014

Peer-reviewed publications in international events

[4-CCC14]

The role of mathematical modeling and genetic engineering for the microalgae based technology

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

GPE 4th International Congress on Green Process Engineering GPE 4th International Congress on Green Process Engineering Sevilla, Spain - february 2014

Various talks, works and publications

[6-CRZ14]

P.SER605DEL IN POLD1 E' UNA MUTAZIONE RICORRENTE CAUSA DELLA SINDROME MDPL

Laura Crisponi, Frederic Reinier, Magdalena Zoledziewska, David Hanna, J.D. Smith, Maria Valentini, Ilenia Zara, Riccardo Berutti, Serena Sanna, Manuela Oppo, Roberto Cusano, M.R. Montesu, Christopher M. S. Jones, D. Cerimele, Debby A. Nickerson, F. Cottoni, Andrea Angius, Francesco Cucca

Poster at SIGU2014 Bologna 30-31 October 2014 - 2014

Publications in 2013

Peer-reviewed publications in International Journals

[2-FMA13]

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

Paolo Francalacci, Laura Morelli, Andrea Angius, Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Ilenia Zara, Daria Sanna, Antonella Useli, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Manuela Oppo, Rosella Pilu, Magdalena Zoledziewska, Maristella Pitzalis, Francesca Deidda, Fausto Poddie, Han Kang, Robert Lyons, Brendan Tarrier, Bragg-Gresham J., B Li, Sergio Tofanelli, A. Alonso, Mariano Dei, Sandra Lai, Antonella Mulas, Michael Whalen, Sergio Uzzau, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Sidore Carlo, Francesco Cucca

Science pages 565-569 vol. 341 - 2013
issn: 0036-8075 doi: 10.1126/science.1237947

[2-OCA13]

Molecular characterization of an Italian series of sporadic GISTs

Paola Origone, Roberto Cusano, et al.

Gastric Cancer - 2013

[2-MCA13]

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Caterina Marconi, Roberto Cusano, et al.

European Journal of Human Genetics Macmillan pages 613--619 vol. 21 - 2013

[2-OSC13]

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrú, Maristella Steri, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Magdalena Zoledziewska, Fabio Busonero, Antonella Mulas, Matteo Floris, Wieslawa Mentzen, Silvana Urru, michele marongiu, Stefania Olla, MG Piras, Lobina M., Andrea Maschio, Maristella Pitzalis, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Francesca Deidda, Manuela Oppo, Rosella Pilu, Frederic Reinier, Riccardo Berutti, Luca Pireddu, Ilenia Zara, Eleonora Porcu, Alan Kwong , Christine Brennan , Brendan Tarrier, Hyun Kang , Robert Lyons, Sergio Uzzau, Rossano Atzeni, Maria Valentini, Firinu D., Lidia Leoni, Gianluca Rotta, Silvia Naitza, Andrea Angius, Mauro Congia, Michael Whalen, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Edoardo Fiorillo, Serena Sanna, Francesco Cucca

Cell Elsevier Inc pages 242-256 vol. 155 num. 1 - september 2013 doi: 10.1016/j.cell.2013.08.041

Peer-reviewed publications in international events

[4-CCO13]

Microalgae based technology for biofuels production and CO2 capture: the role of mathematical modeling and genetic engineering

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

ATTI DEI CONVEGNI LINCEI 294 ACCADEMIA NAZIONALE DEI LINCEI Accademia dei Lincei, Convegno Internazionale LA SFIDA DEI TERAWATT: QUALE RICERCA PER L’ENERGIA DEL FUTURO? pages 153-160 Bardi Edizioni Rome, Italy - 2013
issn: 0391-805X
isbn: 978-88-218-1118-0

[4-PMZ13]

A large-scale transcriptome study in the Sardinian population.

Mauro Pala, Mara Marongiu, Z Zappala, Antonella Mulas, Roberto Cusano, Francesca Crobu, Frederic Reinier, Riccardo Berutti, MG Piras, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Andrea Angius, Serena Sanna, Francesco Cucca, Stephen Montgomery

ASHG 2013, Boston, USA, October 22-26. - 2013

Publications in 2012

Peer-reviewed publications in international events

[4-PMM12]

The genetics of gene expression, splicing and transcriptional efficiency through Poly-A selection and ribosomal depletion RNA sequencing in humans.

Mauro Pala, Mara Marongiu, Antonella Mulas, Roberto Cusano, Francesca Crobu, Frederic Reinier, Riccardo Berutti, MG Piras, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Andrea Angius, Serena Sanna, Francesco Cucca, Stephen Montgomery

ASHG 2012, San Francisco, USA, November 06-10. - 2012

[4-CSK12]

Whole Genome Sequencing of 2100 Individuals in the founder Sardinian Population.

Sidore Carlo, Serena Sanna, Alan Kwong , Han Kang, Roberto Cusano, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Maschio, Fabio Busonero, M. L. Lobina, Andrea Angius, Robert Lyons, C Terrier, Christine Brennan , Rossano Atzeni, Antonella Mulas, Mariano Dei, MG Piras, Sandra Lai, Frederic Reinier, Riccardo Berutti, Christopher M. S. Jones, Marco Marcelli, Maria Francesca Urru, Manuela Oppo, David Schlessinger, Gonçalo R. Abecasis, Francesco Cucca

ASHG 2012, San Francisco, USA, November 06-10. - 2012

Display the complete list (50 publications) Download the list

1 2 3