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Publications en 2024

Peer-reviewed publications in International Journals

[2-FPC24]

Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset

Paola Forabosco, Mauro Pala, Francesca Crobu, Mara Marongiu, ..., Roberto Cusano, . ..., Marcella Devoto, Francesco Cucca

Frontiers in immunology Frontiers - 2024 doi: 10.3389/fimmu.2024.1350111

Publications en 2019

Peer-reviewed publications in International Journals

[2-AUO19]

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi

BMC Medical Genetics - 2019 doi: 10.1186/s12881-019-0745-7

[2-AUO19]

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi

American Journal of Medical Genetics - 2019 doi: 10.1002/ajmg.a.61052

[2-AUO19]

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi

Clinical Genetics - 2019 doi: 10.1111/cge.13532

Publications en 2018

Peer-reviewed publications in International Journals

[2-ACU18]

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Andrea Angius, Silvia Cossu, Paolo Uva, Manuela Oppo, Stefano Onano, Ivana Persico, Giorgio Fotia, Rossano Atzeni, Gianmauro Cuccuru, M Asunis, Francesco Cucca, Dario Pruna, Laura Crisponi

Clinical Genetics - february 2018 doi: 10.1111/cge.13162

Publications en 2017

Peer-reviewed publications in International Journals

[2-SOI17]

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca

The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017 doi: 10.1056/NEJMoa1610528

Publications en 2016

Peer-reviewed publications in International Journals

[2-MDM16]

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Alessandra Meloni, Andrea Angius, Roberto Cusano, Angela Loi, Francesca Crobu, Giorgio Fotia, Francesco Cucca, David Schlessinger, Laura Crisponi

Developmental Biology pages 200-211 vol. 416 num. 1 - 2016 doi: 10.1016/j.ydbio.2016.05.022

[2-ABA16]

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

Till FM Andlauer, Dorothea Buck, Gisela Antony, Antonios Bayas, Lukas Bechmann, Achim Berthele, Andrew Chan, Christiane Gasperi, Ralf Gold, Christiane Graetz, Jürgen Haas, Michael Hecker, Carmen Infante-Duarte, Matthias Knop, Tania Kümpfel, Volker Limmroth, Ralf A Linker, Verena Loleit, Felix Luessi, Sven G Meuth, Mark Mühlau, Sandra Nischwitz, Friedemann Paul, Michael Pütz, Tobias Ruck, Martin Stangel, Jan-Patrick Stellmann, Klarissa H Stürner, Björn Tackenberg, Florian Then Bergh, Hayrettin Tumani, Clemens Warnke, Frank Weber, Heinz Wiendl, Brigitte Wildemann, Uwe K Zettl, Ulf Ziemann, Frauke Zipp, Janine Arloth, Peter Weber, Milena Radivojkov-Blagojevic, Markus O Scheinhardt, Theresa Dankowski, Thomas Bettecken, Peter Lichtner, Darina Czamara, Tania Carrillo-Roa, Elisabeth B Binder, Klaus Berger, Lars Bertram, Andre Franke, Christian Gieger, Stefan Herms, Georg Homuth, Marcus Ising, Karl-Heinz Jöckel, Tim Kacprowski, Stefan Kloiber, Matthias Laudes, Wolfgang Lieb, Christina M Lill, Susanne Lucae, Thomas Meitinger, Susanne Moebus, Martina Müller-Nurasyid, Markus M Nöthen, Astrid Petersmann, Rajesh Rawal, Ulf Schminke, Konstantin Strauch, Henry Völzke, Melanie Waldenberger, Jürgen Wellmann, Eleonora Porcu, Antonella Mulas, Maristella Pitzalis, Carlo Sidore, Ilenia Zara, Francesco Cucca, Magdalena Zoledziewska, Andreas Ziegler, Bernhard Hemmer, Bertram Müller-Myhsok

Science Advances American Association for the Advancement of Science pages e1501678 vol. 2 num. 6 - june 2016 doi: 10.1126/sciadv.1501678

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-ZC.15]

Height-reducing variants and selection for short stature in Sardinia

Magdalena Zoledziewska, Sidore Carlo, ..., Matteo Floris, . ..., David Schlessinger, Francesco Cucca

Nature Genetics pages 1352--6 vol. 47 num. 11 - 2015 doi: 10.1038/ng.3403

[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

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

Various talks, works and publications

[6-UPO15]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Paolo Uva, Alessandro Puddu, Manuela Oppo, Stefano Onano, Loredana Marcia, Manila Deiana, Angela Loi, Mara Marongiu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius, Laura Crisponi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 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-CUO14]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius

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-PPP13]

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]

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

[2-CGF12]

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]

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]

Genome-Wide Association Study of Multiple Sclerosis Confirms a Novel Locus at 5p13.1

PLoS One - may 2012 doi: 10.1371/journal.pone.0036140

[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

[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

Various talks, works and publications

[6-MSM12]

Genome-wide ChIP-seq analysis to identify mouse Foxl2 binding sites in vivo.

Mara Marongiu, Andrea Sbardellati, Loredana Marcia, Alessandra Meloni, Roberto Cusano, Andrea Angius, Giorgio Fotia, Francesco Cucca, Laura Crisponi

Poster presentation (823F) at ASHG 2012, San Francisco, USA, November 06-10. - 2012

Publications en 2011

Peer-reviewed publications in international events

[4-SSB11]

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]

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-JSS11]

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]

Large-scale transcriptome study in the Sardinian founder population.

ICHG/ASHG 2011, Montréal, Canada, October 11-15 - 2011

[4-PMM11]

Large-scale transcriptome study in the Sardinian founder population.

ICHG/ASHG 2011, Montréal, Canada, October 11-15 - 2011

[4-ZPZ11]

A genome-wide association study for two autoimmune diseases in Sardinia

Ilenia Zara, Maristella Pitzalis, Magdalena Zoledziewska, Raffaele Murru, Francesca Deidda, Mariano Dei, Sandra Lai, Fausto Poddie, Roberto Cusano, Marco Marcelli, Frederic Reinier, Riccardo Berutti, Carlo Sidore, Maria Valentini, Gabriele Farina, David Schlessinger, Giulio Rosati, Maria Giovanna Marrosu, Serena Sanna, Francesco Cucca

ESHG (European Society of Human Genetics) 2011, Amsterdam, The Netherlands - may 2011

Publications en 2010

Peer-reviewed publications in International Journals

[2-MCS10]

A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture

Laura Morelli, Daniela Contu, Federico Andrea Santoni, Michael Whalen, Paolo Francalacci, Francesco Cucca

PLoS ONE pages e10419 vol. 5 num. 4 - 2010 doi: 10.1371/journal.pone.0010419

[2-SPZ10]

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Serena Sanna, Maristella Pitzalis, Magdalena Zoledziewska, Ilenia Zara, Carlo Sidore, Raffaele Murru, Michael Whalen, Fabio Busonero, Andrea Maschio, Gianna Costa, Maria Cristina Melis, Francesca Deidda, Fausto Poddie, Laura Morelli, Gabriele Farina, Yun Li, Mariano Dei, Sandra Lai, Antonella Mulas, Gianmauro Cuccuru, Eleonora Porcu, Liming Liang, Patrizia Zavattari, Loredana Moi, Elisa Deriu, Maria Francesca Urru, Michele Bajorek, Maria Anna Satta, Eleonora Cocco, Paola Ferrigno, Stefano Sotgiu, Maura Pugliatti, Sebastiano Traccis, Andrea Angius, Maurizio Melis, Giulio Rosati, Gonçalo R. Abecasis, Manuela Uda, Maria Giovanna Marrosu, David Schlessinger, Francesco Cucca

Nature Genetics Nature Publishing Group pages 495–497 vol. 42 - may 2010 doi: 10.1038/ng.584

Peer-reviewed publications in international events

[4-SPZ10]

A GWAS in Sardinians revelas a novel gene associated with Multiple Sclerosis.

Serena Sanna, Maristella Pitzalis, Magdalena Zoledziewska, Ilenia Zara, Carlo Sidore, Raffaele Murru, Michael Whalen, Fabio Busonero, Andrea Maschio, Gianna Costa, Maura Pugliatti, Sebastiano Traccis, Andrea Angius, Maurizio Melis, Giulio Rosati, Gonçalo R. Abecasis, Manuela Uda, Maria Giovanna Marrosu, David Schlessinger, Francesco Cucca

ESHG 2010, Goteborg June 12-16. (Oral Communication) - 2010

[4-SPZ10]

Variants within the CBLB gene are associated with multiple sclerosis.

Serena Sanna, Maristella Pitzalis, Ilenia Zara, Carlo Sidore, Michael Whalen, Raffaele Murru, Gianna Costa, Maria Cristina Melis, Francesca Deidda, L Corrado, Fausto Poddie, Laura Morelli, Gabriele Farina, Mariano Dei, Sandra Lai, Antonella Mulas, Yun Li, Maura Pugliatti, Sebastiano Traccis, Andrea Angius, Maurizio Melis, Giulio Rosati, Gonçalo R. Abecasis, Manuela Uda, Maria Giovanna Marrosu, David Schlessinger, Francesco Cucca

60 th American Society of Human Genetics (ASHG) 2010 ASHG - november 2010

Publications en 2008

Peer-reviewed publications in International Journals

[2-CMS08]

Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans

Daniela Contu, Laura Morelli, Federico Andrea Santoni, Jamie W. Foster, Paolo Francalacci, Francesco Cucca

PLoS ONE pages e1430 vol. 3 num. 1 - january 2008 doi: 10.1371/journal.pone.0001430

[2-PZM08]

Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

Maristella Pitzalis, Patrizia Zavattari, Raffaele Murru, Elisabetta Deidda, Magdalena Zoledziewska, Daniela Murru, Loredana Moi, Costantino Motzo, Valeria Orrú, Gianna Costa, Elisabetta Solla, Elisabetta Fadda, Lucia Schirru, Maria C Melis, Marina Lai, Cristina Mancosu, Stefania Tranquilli, Stefania Cuccu, Marcella Rolesu, Maria A Secci, Daniela Corongiu, Daniela Contu, Rosanna Lampis, Annalisa Nucaro, Gavino Pala, Adolfo Pacifico, Maria Antonietta Maioli, Paola Frongia, Margherita Chessa, Rossella Ricciardi, Stanislao Lostia, Anna M Marinaro, Anna F Milia, Novella Landis, D. Zedda, Michael Whalen, Federico Andrea Santoni, Marcella Devoto, Francesco Cucca, Mario Maioli

BMC Medical Genetics BioMed Central Ltd vol. 9 num. 3 - january 2008 doi: 10.1186/1471-2350-9-3

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