CRS4

Publications de Cucca au CRS4


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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-PPP13] [Add to your selection]
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Tommaso Pippucci, A Parmeggiani, F Palombo, A Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, R Liguori, ML Valentino, Marco Seri, Valerio Carelli
PLoS One pages 1-7 vol. 8 (12) - december 2013  doi: 10.1371/journal.pone.0082154
[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-PPC13] [Add to your selection]
Genotype imputation in the era of next-generation sequencing.
Giorgio Pistis, Eleonora Porcu, Sidore Carlo, F Danjou, Maristella Steri, Antonella Mulas, Magdalena Zoledziewska, Fabio Busonero, Frederic Reinier, Rossano Atzeni, Rosella Pilu, Marco Marcelli, Brendan Tarrier, Han Kang, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Francesco Cucca, Serena Sanna
ASHG 2013, Boston, USA, October 22-26 - 2013
[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-PMZ13] [Add to your selection]
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
[4-SMZ13] [Add to your selection]
Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort.
Maristella Steri, Antonella Mulas, Magdalena Zoledziewska, Sidore Carlo, Giorgio Pistis, F Danjou, Eleonora Porcu, Mara Marongiu, Fabio Busonero, MG Piras, M. L. Lobina, Frederic Reinier, Riccardo Berutti, Maria Francesca Urru, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca
ESHG 2013, Paris, France, June 08-11. - 2013
[4-ASA13] [Add to your selection]
Post GWAS analysis of a BCLA intronic region to define its role in regulating HbF levels.
Francesca Anedda, Serena Sanna, Isadora Asunis, Gianluca Usala, F Danjou, A Caria, L Perseu, Alessia Loi, A Cabriolu, Eleonora Porcu, Giuseppina marini, Mara Marongiu, Sidore Carlo, Riccardo Berutti, Mauro Pala, Andrea Angius, Fabio Busonero, Andrea Maschio, Stefania Satta, F Demartis, L maccioni, R. Nagaraja, Gonçalo R. Abecasis, David Schlessinger, maria Serafina Ristaldi, Renzo Galanello, Paolo moi, Francesco Cucca, Manuela Uda
ESHG 2013, Paris, France, June 08-11. - 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
Peer-reviewed publications in national events
[5-BZS13] [Add to your selection]
The combined effect of Multiple Sclerosis susceptibility variants in continental Italy and Sardinia
Nadia Barizzone, Ilenia Zara, M. Sorosina, S. Lupoli, Eleonora Porcu, Sonia Sanna, Alessia Loi, Maristella Pitzalis, F. Esposito, M. Leone, A. Lucenti, Magdalena Zoledziewska, Antonella Mulas, Eleonora Cocco, F.R. Guerini, P. Brambilla, Gabriele Farina, Fausto Poddie, V. Martinelli, G. Comi, Giulio Rosati, Jessica Frau, Maurizio Melis, The PROGEMUS Group, The PROGRESSO Group, The IMSGC, Maria Giovanna Marrosu, D. Cusi, Serena Sanna, Francesco Cucca, Filippo Martinelli Boneschi, Sandra DAlfonso
SIGU (Società Italiana Genetica Umana) National Congress - september 2013
 
Publications en 2012
Peer-reviewed publications in International Journals
[2-PSM12] [Add to your selection]
Imputation quality thresholds for rare and common variants
Giorgio Pistis, Carlo Sidore, Antonella Mulas, Magdalena Zoledziewska, Riccardo Berutti, Frederic Reinier, Maria Francesca Urru, Andrea Maschio, Marco Marcelli, Andrea Angius, Christopher M. S. Jones, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca
1000 Genomes Project Community Meeting - july 12-13 - 2012
[2-CGF12] [Add to your selection]
A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis
R Cagliani, FR Guerrini, M Fumagalli, S Riva, C Agliardi, D Galimberti, U Pozzoli, An Goris, Bénédicte Dubois, C Fenoglio, D Forni, Serena Sanna, Ilenia Zara, Maristella Pitzalis, Magdalena Zoledziewska, Francesco Cucca, F Marini, GP Comi, E Scarpini, N Bresolin, M Clerici, M Sironi
Molecular Biology and Evolution Oxford Journals - 2012  doi: 10.1093/molbev/mss002
[2-MGL12] [Add to your selection]
Genome-Wide Association Study of Multiple Sclerosis Confirms a Novel Locus at 5p13.1
Fuencisla Matesanz, Antonio González-Pérez, Miguel Lucas, Serena Sanna, Javier Gayán, Elena Urcelay, Ilenia Zara, Maristella Pitzalis, María L Cavanillas, Rafael Arroyo, Magdalena Zoledziewska, Maria Giovanna Marrosu, Oscar Fernández, Laura Leyva, Antonio Alcina, Maria Fedetz, Concha Moreno-Rey, Juan Velasco, Luis M Real, Juan Luis Ruiz-Peña, Francesco Cucca, Agustín Ruiz, Guillermo Izquierdo
PLoS One - may 2012  doi: 10.1371/journal.pone.0036140
[2-MGL12] [Add to your selection]
Genome-Wide Association Study of Multiple Sclerosis Confirms a Novel Locus at 5p13.1
Fuencisla Matesanz, Antonio González-Pérez, Miguel Lucas, Serena Sanna, Javier Gayán, Elena Urcelay, Ilenia Zara, Maristella Pitzalis, María L Cavanillas, Rafael Arroyo, Magdalena Zoledziewska, Maria Giovanna Marrosu, Oscar Fernández, Laura Leyva, Antonio Alcina, Maria Fedetz, Concha Moreno-Rey, Juan Velasco, Luis M Real, Juan Luis Ruiz-Peña, Francesco Cucca, Agustín Ruiz, Guillermo Izquierdo
PLoS One - may 2012  doi: 10.1371/journal.pone.0036140
[2-OFS12] [Add to your selection]
Genetic factors regulating the levels of immune system cells in health and disease
Valeria Orrú, Edoardo Fiorillo, Maristella Steri, Sole Gabriella, Francesca Virdis, Mariano Dei, Sandra Lai, Antonella Mulas, M. Piras, Lobina M., Mara Marongiu, Mauro Congia, Firinu D., Michael Whalen, Sidore Carlo, Maria Francesca Urru, Fabio Busonero, Frederic Reinier, Marco Marcelli, Rossano Atzeni, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca
European Network of Immunology Institutes (ENII) - april 2012
[2-NPS12] [Add to your selection]
A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation
Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D. Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L. Longo, Edward Lakatta, Gonçalo R. Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca
PloS Genetics vol. 8 - january 2012  doi: 10.1371/journal.pgen.1002480
Peer-reviewed publications in international events
[4-SOF12] [Add to your selection]
Genetic factors associated with levels of immune cell types
Maristella Steri, Valeria Orrú, Edoardo Fiorillo, Sole Gabriella, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Antonella Mulas, MG Piras, Lobina M., Mara Marongiu, Magdalena Zoledziewska, Mauro Congia, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Rossano Atzeni, Firinu D., Maria Valentini, Wieslawa Mentzen, Silvia Naitza, Michael Whalen, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca
American Society of Human Genetics/ San Francisco - Nov 6-10 - 2012
[4-DUP12] [Add to your selection]
Application of next generation sequencing to identify causative variant at the BCLA locus
F Danjou, Gianluca Usala, L Perseu, Sidore Carlo, Fabio Busonero, Riccardo Berutti, Frederic Reinier, Andrea Angius, Andrea Maschio, Christopher M. S. Jones, Franco Anni, Stefania Satta, F Demartis, N Ramaiah, Gonçalo R. Abecasis, David Schlessinger, Renzo Galanello, Francesco Cucca, Serena Sanna, Manuela Uda
ESHG 2012, Nürnberg, Germany, June 23 – 26 - 2012
[4-ASA12] [Add to your selection]
Post GWAS analysis of the BCL11A intronic region to define its role in regulating HbF levels
Francesca Anedda, Serena Sanna, Isadora Asunis, Gianluca Usala, F Danjou, L Perseu, A Cabriolu, A Caria, Loredana Porcu, Giuseppina marini, Mara Marongiu, Carlo Sidore, Riccardo Berutti, Mauro Pala, Andrea Angius, Fabio Busonero, Andrea Maschio, Stefania Satta, F Demartis, L maccioni, Alessandra Meloni, R. Nagaraja, Gonçalo R. Abecasis, David Schlessinger, maria Serafina Ristaldi, Renzo Galanello, Paolo moi, Francesco Cucca, Manuela Uda
ASHG 2012, San Francisco, USA, November 06-10. - 2012
[4-PMM12] [Add to your selection]
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

Afficher toute la liste (59 publications) Download the selection
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