CRS4

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Publications en 2014
Various talks, works and publications
[6-CUO14] [Add to your selection]
Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing
Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius
Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014
[6-CRZ14] [Add to your selection]
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 en 2013
Peer-reviewed publications in International Journals
[2-FMA13] [Add to your selection]
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-OSC13] [Add to your selection]
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-PCS13] [Add to your selection]
Sequencing-based GWAS contributes to the refinement of association signals for inflammatory markers in Sardinians.
Eleonora Porcu, Sidore Carlo, Maristella Steri, Antonella Mulas, Magdalena Zoledziewska, Fabio Busonero, Andrea Maschio, F Danjou, Giorgio Pistis, MG Piras, Mariano Dei, Sandra Lai, Han Kang, Christine Brennan , Riccardo Berutti, Maria Francesca Urru, Manuela Oppo, Andrea Angius, David Schlessinger, Francesco Cucca, Gonçalo R. Abecasis, Silvia Naitza, Serena Sanna
ASHG 2013, Boston, USA, October 22-26 - 2013
[4-MPB13] [Add to your selection]
Whole-exome sequencing in pedigrees segregating Type 1 Diabetes
Elisabetta Mereu, Maristella Pitzalis, Riccardo Berutti, Manuela Oppo, Carlo Sidore, Magdalena Zoledziewska, Laura Crisponi, Maria Valentini, Alessandro Puddu, Ilenia Zara, Francesca Deidda, Frederic Reinier, Renzo Galanello, P. Pusceddu, M. Frongia, Christopher M. S. Jones, Andrea Angius, Serena Sanna, Francesco Cucca
ESHG (European Society of Human Genetics) 2013 - june 2013
 
Publications en 2012
Peer-reviewed publications in international events
[4-CSK12] [Add to your selection]
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
[4-JSC12] [Add to your selection]
Heritability of the Variation in Aging in Two Longitudinal Family Cohort Studies: SardiNIA/Progenia Study and Framingham Heart Study.
Bragg-Gresham J., Serena Sanna, Sidore Carlo, Antonella Mulas, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Frederic Reinier, Riccardo Berutti, Marco Marcelli, Roberto Cusano, Manuela Oppo, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Angius, Christopher M. S. Jones, Antonio Cao, Manuela Uda, Kardia S., David Schlessinger, Francesco Cucca, Gonçalo R. Abecasis
ASHG 2012, San Francisco, USA, November 06-10. - 2012
[4-ZPZ12] [Add to your selection]
Sequencing-based and multiplatform Genome-Wide Association Study for Multiple Sclerosis and Type 1 Diabetes in Sardinians
Ilenia Zara, Eleonora Porcu, Magdalena Zoledziewska, Maristella Pitzalis, Maria Valentini, Antonella Mulas, Fabio Busonero, Rossano Atzeni, Manuela Oppo, Frederic Reinier, Riccardo Berutti, Rosella Pilu, Francesca Deidda, Carlo Sidore, Roberta Piras, Alessia Loi, Sonia Sanna, Eleonora Cocco, Fausto Poddie, Gabriele Farina, Giulio Rosati, Luca Lianas, Gianmauro Cuccuru, Gianluigi Zanetti, Andrea Angius, Maria Giovanna Marrosu, Christopher M. S. Jones, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca
ASHG (American Society of Human Genetics) 2012, San Francisco, USA - november 2012
[4-ZOC12] [Add to your selection]
Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing
Ilenia Zara, Manuela Oppo, Francesca Chiappe, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Christopher M. S. Jones, V. Dessì, Gigliola Serra, Maria Valentini, Andrea Angius, Serena Sanna, Francesco Cucca, Laura Crisponi
ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012
[4-BRA12] [Add to your selection]
QCTool: an efficient toolkit to automatically generate quality metrics of next-generation sequencing data.
Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Andrea Angius, Roberto Cusano, Marco Marcelli, Manuela Oppo, Rosella Pilu, Maria Francesca Urru, Maria Valentini, Ilenia Zara, Serena Sanna, Francesco Cucca, Christopher M. S. Jones
ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012
Thesis and academic qualification
[9-OPP12] [Add to your selection]
Analysis and Interpretation of NGS/Exome Sequencing Data in Biomedicine
Manuela Oppo
Project work report (Tutor: P.Uva) - Master di II Livello In Bioinformatica, Universita’ degli Studi di Cagliari - 2012
 
Publications en 2011
Peer-reviewed publications in international events
[4-RBS11] [Add to your selection]
Likelihood Based Deletion Analysis in a Sample of Sequenced Sardinian Individuals
S. Rashkin, T. Blackwell, Carlo Sidore, Serena Sanna, Fabio Busonero, W. Chen, Han Kang, C. Fuchsberger, Frederic Reinier, Riccardo Berutti, Francesca Deidda, Maria Francesca Urru, Marco Marcelli, Manuela Oppo, Andrea Maschio, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Angius, R. Nagaraja, Manuela Uda, David Schlessinger, Christopher M. S. Jones, Francesco Cucca, Gonçalo R. Abecasis
American Society of Human Genetics/ICHG - Oct 14 - 2011
[4-SSB11] [Add to your selection]
Whole Genome Sequencing of 1000 individuals in an Isolated Population
Carlo Sidore, Serena Sanna, Fabio Busonero, W. Chen, Han Kang, C. Fuchsberger, Frederic Reinier, Riccardo Berutti, Hovelson D., Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Manuela Oppo, Andrea Maschio, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Angius, R. Nagaraja, Manuela Uda, David Schlessinger, Christopher M. S. Jones
American Society of Human Genetics/ICHG - Oct 14 - 2011
[4-JSS11] [Add to your selection]
Genetic Associations with the Variation in Aging from the SardiNIA/Progenia Project
Bragg-Gresham J., Serena Sanna, Kardia S., Gonçalo R. Abecasis, Manuela Uda, Francesco Cucca, Antonio Cao, Antonella Mulas, Fabio Busonero, Frederic Reinier, Riccardo Berutti, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Manuela Oppo, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Angius, Christopher M. S. Jones, David Schlessinger
American Society of Human Genetics/ICHG - Oct 13 - 2011

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