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Publications en 2015

Peer-reviewed publications in International Journals

[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

[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-BZS15]

The burden of multiple sclerosis variants in continental Italians and Sardinians

Nadia Barizzone, Ilenia Zara, M. Sorosina, S. Lupoli, Eleonora Porcu, Maristella Pitzalis, Magdalena Zoledziewska, F. Esposito, Maurizio Leone, Antonella Mulas, Eleonora Cocco, Paola Ferrigno, F.R. Guerini, P. Brambilla, Gabriele Farina, Raffaele Murru, Francesca Deidda, Sonia Sanna, Alessia Loi, C Barlassina, Domizia Vecchio, A. Zauli, F. Clarelli, D. Braga, Fausto Poddie, Roberto Cantello, V. Martinelli, G. Comi, Jessica Frau, Lorena Lorefice, Maura Pugliatti, Giulio Rosati, Maurizio Melis, Maria Giovanna Marrosu, D. Cusi, Francesco Cucca, Filippo Martinelli Boneschi, Serena Sanna, Sandra DAlfonso

Multiple Sclerosis Journal SAGE Publications pages 1385--1395 vol. 21 num. 11 - october 2015 doi: 10.1177/1352458515596599

[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 international events

[4-SBZ15]

The burden of Multiple Sclerosis variants in continental Italians and Sardinians

Serena Sanna, Nadia Barizzone, Ilenia Zara, M. Sorosina, S. Lupoli, Eleonora Porcu, Maristella Pitzalis, Magdalena Zoledziewska, F. Esposito, Antonella Mulas, Eleonora Cocco, F.R. Guerini, P. Brambilla, Gabriele Farina, Raffaele Murru, Francesca Deidda, Sonia Sanna, Alessia Loi, C Barlassina, D Vecchio, A. Zauli, F. Clarelli, D. Braga, Fausto Poddie, Jessica Frau, Lorena Lorefice, D. Cusi, Francesco Cucca, Filippo Martinelli Boneschi, Sandra DAlfonso

ASHG 2015 - 2015

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

Various talks, works and publications

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, Chiara Perria, Valentina Pes, Gigliola Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

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]

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]

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-PPC13]

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]

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

[4-MPB13]

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]

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]

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

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