CRS4

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35 publications Download the selection

Publications en 2015
Peer-reviewed publications in International Journals
[2-RZH15] [Add to your selection]
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] [Add to your selection]
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
Peer-reviewed publications in national events
[5-CSP15] [Add to your selection]
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
[2-1AJ14] [Add to your selection]
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
. 1000 Genomes Project Consortiu, Andrea Angius, Christopher M. S. Jones, Frederic Reinier
Genome Biology vol. 15 num. 6 - june 2014  doi: 10.1186/gb-2014-15-6-r88
[2-SCM14] [Add to your selection]
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] [Add to your selection]
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 2014 - 2014
Various talks, works and publications
[6-COU14] [Add to your selection]
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] [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
[2-1AJ13] [Add to your selection]
Integrative annotation of variants from 1092 humans: application to cancer genomics.
. 1000 Genomes Project Consortiu, Andrea Angius, Christopher M. S. Jones, Frederic Reinier
Science Science pages 1-11 vol. 342 num. 6154 - october 2013  doi: 10.1126/science.1235587
[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-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-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 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
[2-1AJ12] [Add to your selection]
An integrated map of genetic variation from 1,092 human genomes
. 1000 Genomes Project Consortiu, Andrea Angius, Christopher M. S. Jones, Frederic Reinier
Nature Nature pages 56-65 vol. 492 num. 7422 - november 2012  doi: 10.1038/nature11632
[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
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-SSG12] [Add to your selection]
Systematic assessment of the immune system by genetic mapping of its quantitative dimensions
Serena Sanna, Maristella Steri, Sole Gabriella, Carlo Sidore, Maria Francesca Urru, Fabio Busonero, Frederic Reinier, Mariano Dei, Sandra Lai, Francesca Virdis, Antonella Mulas, Marco Marcelli, Rossano Atzeni, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Valeria Orrú, Edoardo Fiorillo
European Human Genetics Conference - June - 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-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
[4-SCM12] [Add to your selection]
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] [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
 
Publications en 2011
Peer-reviewed publications in international events
[4-SSB11] [Add to your selection]
Whole Genome Sequencing of 500 individuals in an Isolated Population
Carlo Sidore, Serena Sanna, Fabio Busonero, W. Chen, Han Kang, C. Fuchsberger, Frederic Reinier, Riccardo Berutti, Maria Francesca Urru, Marco Marcelli, Andrea Maschio, R. Nagaraja, Manuela Uda, David Schlessinger, Christopher M. S. Jones, Francesco Cucca, Gonçalo R. Abecasis
Biology of Genomes Conference - 2011
[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
[4-PMM11] [Add to your selection]
Large-scale transcriptome study in the Sardinian founder population.
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
ICHG/ASHG 2011, Montréal, Canada, October 11-15 - 2011
[4-PMM11] [Add to your selection]
Large-scale transcriptome study in the Sardinian founder population.
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
ICHG/ASHG 2011, Montréal, Canada, October 11-15 - 2011
[4-VZM11] [Add to your selection]
Comparison of two Strategies for Genotype Calling
Maria Valentini, Ilenia Zara, Michele Muggiri, Carlo Podda, Lidia Leoni, Christopher M. S. Jones, Serena Sanna
ESHG 2011 - European Human Genetics Conference 2011 - may 2011

35 publications Download the selection