Publications de Berutti au CRS4

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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

Publications en 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-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

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

Peer-reviewed publications in international events

[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-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

[4-JSC12]

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]

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]

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]

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

Afficher toute la liste (28 publications) Download the selection

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