Publications de Abecasis au CRS4

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Publications en 2015

Peer-reviewed publications in International Journals

[2-CBM15]

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Sidore Carlo, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou, Alan Kwong , Rossano Atzeni, Riccardo Berutti, Frederic Reinier, Christopher M. S. Jones, Andrea Angius, Hyun Kang , John Novembre, Serena Sanna, David Schlessinger, Francesco Cucca, Gonçalo R. Abecasis

Nature Genetics - 2015

[2-PLP15]

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

G Palomba, Alessia Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara, Mario Budroni, Mariano Dei, Sandra Lai, Antonella Mulas, N Olmeo, MT Ionta, Francesco Atzori, Gianmauro Cuccuru, Maristella Pitzalis, Magdalena Zoledziewska, N Olla, M Lovicu, M Pisano, Gonçalo R. Abecasis, Manuela Uda, Francesco Tanda, K Michailidou, DF Easton, SJ Chanock, RN Hoover, DJ Hunter, David Schlessinger, Serena Sanna, Laura Crisponi, G Palmieri

BMC Cancer - may 2015 doi: 10.1186/s12885-015-1392-9

Peer-reviewed publications in national events

[5-CSP15]

Rational design of new candidate compounds for multiple sclerosis treatment based on analysis of biological targets identified through genome wide association studies in Sardinia

Francesco Cucca, Maristella Steri, Maristella Pitzalis, Magdalena Zoledziewska, Valeria Orrú, Ilenia Zara, Eleonora Porcu, Antonella Mulas, Francesca Deidda, Isadora Asunis, Sole Gabriella, Francesca Virdis, Raffaele Murru, Michael Whalen, Fabio Busonero, Andrea Maschio, Andrea Angius, Christopher M. S. Jones, Eleonora Cocco, Gianna Costa, Cristina Mancosu, Jessica Frau, Lorena Lorefice, Giada Fenu, Giancarlo Coghe, Marta Melis, Sonia Sanna, Fausto Poddie, Maria Laura Idda, Laura Morelli, Gabriele Farina, Piero Cossu, Maurizio Melis, Paola Ferrigno, Carlo Sidore, Giulio Rosati, Sandra DAlfonso, Valeria Faa, Stefania Olla, Mauro Pala, Gonçalo R. Abecasis, Alessandra Meloni, Matteo Floris, Edoardo Fiorillo, Maria Giovanna Marrosu, Serena Sanna

FISM (Fondazione Italiana Sclerosi Multipla) Meeting 2015 - 2015

Publications en 2014

Peer-reviewed publications in International Journals

[2-SCM14]

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

Martin Sikora, Meredith L Carpenter, Andres Moreno-Estrada, Brenna M. Henn, Peter A. Underhill, Federico Sánchez-Quinto, Ilenia Zara, Maristella Pitzalis, Carlo Sidore, Fabio Busonero, Andrea Maschio, Andrea Angius, Christopher M. S. Jones, Javier Mendoza-Revilla, Georgi Nekhrizov, Diana Dimitrova, Nikola Theodossiev, Timothy T Harkins, Andreas Keller, Frank Maixner, Albert Zink, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca, Carlos D Bustamante

PLoS Genetics - may 2014 doi: 10.1371/journal.pgen.1004353

Peer-reviewed publications in national events

[5-CSP14]

Rational design of new candidate compounds for multiple sclerosis treatment based on analysis of biological targets identified through genome wide association studies in Sardinia

FISM (Fondazione Italiana Sclerosi Multipla) Meeting 2014 - 2014

Publications en 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-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-PCS13]

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]

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]

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]

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

Publications en 2012

Peer-reviewed publications in International Journals

[2-PSM12]

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-OFS12]

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]

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]

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]

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]

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]

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-SCM12]

On the Sardinian ancestry of the Tyrolean Iceman.

Martin Sikora, Meredith L Carpenter, Andres Moreno-Estrada, Brenna M. Henn, Peter A. Underhill, Ilenia Zara, Maristella Pitzalis, Sidore Carlo, Frederic Reinier, Marco Marcelli, Andrea Angius, Christopher M. S. Jones, Timothy T Harkins, Andreas Keller, Albert Zink, Gonçalo R. Abecasis, Francesco Cucca, Carlos D Bustamante

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

Afficher toute la liste (30 publications) Download the selection

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