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Publications en 2024

Peer-reviewed publications in International Journals

[2-AMP24]

A novel affordable and reliable framework for accurate detection and comprehensive analysis of somatic mutations in cancer

Rossano Atzeni, Matteo Massidda, Enrico Pieroni, Vincenzo Rallo, Massimo Pisu, Andrea Angius

International Journal of Molecular Sciences - MDPI - 8044 - vol. 25 num. 15 - july 2024
issn: 1422-0067 doi: 10.3390/ijms25158044

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-AUP19]

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

Andrea Angius, Paolo Uva, Giovanna Pira, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Molecular Sciences pages 4067 vol. 20 num. 16 - 2019 doi: 10.3390/ijms20164067

[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

[2-APS19]

MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers

Andrea Angius, Giovanna Pira, Antonio Scanu, Paolo Uva, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Medical Sciences - 2019 doi: 10.7150/ijms.35269

Publications en 2018

Peer-reviewed publications in International Journals

[2-U L18]

miRNA-135b Contributes to Triple Negative Breast Cancer Molecular Heterogeneity: Different Expression Profile in Basal-like Versus non-Basal-like Phenotypes

Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Giovanna Pira, Luciano Murgia, Sandra Orrù, Matteo Floris, Maria Rosaria Muroni, Francesca Sanges, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

International Journal of Medical Sciences - march 2018 doi: 10.7150/ijms.23402

[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-CAO17]

Epileptic phenotypes related to the UNC79-UNC80- NALCN protein complex

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Laura Crisponi, Dario Pruna

Clinical cases and reviews in epilepsy Cic pages 54 - 58 - 2017 doi: 10.11138/ccre/2017.2.1.054

Peer-reviewed publications in National Journals

[3-PMS17]

Il microRNA-135b nella caratterizzazione molecolare del carcinoma della mammella triplo negativo

Giovanna Pira, Luciano Murgia, Francesca Sanges, Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Sandra Orrù, Maria Rosaria Muroni, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

Biochimica Clinica pages 239-244 vol. 41 num. 3 - august 2017 doi: 10.19186/BC_2017.035

Various talks, works and publications

[6-DOA17]

The impact of an in-house Italian exome database for variant prioritization

Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia, Paolo Uva

Oral presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-CAO17]

Fenotipo epilettico in due fratelli con mutazioni nel gene NALCN

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Dario Pruna, Laura Crisponi

Poster presentation at 40 Congresso Nazionale LICE, 7-9 giugno 2017 - june 2017

[6-PSM17]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017

Publications en 2016

Peer-reviewed publications in International Journals

[2-OCM16]

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor & Francis pages 1539-1541 vol. 27 num. 2 - 2016 doi: 10.3109/19401736.2014.953128

[2-OCM16]

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor and Francis pages 3128--3130 vol. 27 - 2016 doi: 10.3109/19401736.2015.1007297

[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-AUB16]

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016 doi: 10.1016/j.ajhg.2016.05.026

[2-OCC16]

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Massimiliano Orsini, Roberto Cusano, Cristina Costelli, Veronica Malavasi, Alessandro Concas, Andrea Angius, Giacomo Cao

Mithocondrial DNA Taylor & Francis pages 838--839 vol. 27 num. 2 - may 2016
issn: 1940-1736 doi: 10.3109/19401736.2014.919466

Peer-reviewed publications in international events

[4-PZM16]

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Stefano Mantero, Daniele Conte, Andrea Angius, Paolo Uva, Paolo Prontera, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

43rd Annual European Calcified Tissue Society Congress - april 2016 doi: 10.1530/boneabs.5.P244

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-UDO16]

The importance of an Italian exome database for the study of rare diseases

Paolo Uva, Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia

Oral presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - 2016

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ...

Oral communication at ESHG 2016, Barcelona, Spain, May 20 2016 - may 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-PBP15]

Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C. Ferrari, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley - 2015 doi: 10.1002/jbmr.2517

[2-CCM15]

The Role of Mathematical Modeling and Genetic Engineering for the Microalgae Based Technology

Alessandro Concas, Cristina Costelli, Veronica Malavasi, Massimiliano Orsini, Roberto Cusano, Massimo Pisu, Andrea Angius, Giacomo Cao

Chemical Engineering Transactions pages 511--516 vol. 43 - 2015 doi: 10.3303/CET1543086

[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

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-CUO15]

Exploiting a large scale biodata management system to support NGS variant detection studies

Gianmauro Cuccuru, Paolo Uva, Stefano Onano, Rossano Atzeni, Simone Leo, Luca Lianas, Manuela Oppo, Luca Pireddu, Andrea Angius, Laura Crisponi, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at ISMB/ECCB, 10-14 July 2015, Dublin - 2015

[6-CLL15]

Combining enabling technologies to build the largest NGS core facility in Italy

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Massimiliano Orsini, Luca Pireddu, Andrea Sbardellati, Rossano Atzeni, Roberto Cusano, Manuela Oppo, Paolo Uva, Andrea Angius, Gianluigi Zanetti, Giorgio Fotia

Invited presentation to Biodata World Congress 2015, Hinxton, Cambridge, UK - 21-22 October - 2015 - 2015

[6-PSM15]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Anna Villa, Cristina Sobacchi

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

[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-PAF14]

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

Ignazio Piras, Andrea Angius, Matteo Floris, Maria Grazia Roncarolo, Alessandro Bulfone, Rosa Bacchetta

Bone marrow transplantation Nature Publishing Group - 2014 doi: 10.1038/bmt.2014.177

[2-1AJ14]

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]

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

[2-PCT14]

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Roberta Piras, Francesca Chiappe, Il Torracca, I Buers, Gianluca Usala, Andrea Angius, MA Akin, Lina Basel-Vanagaite, Fabrizio Benedicenti, E Chiodin, O El Assy, M Feingold-Zadok, J Guibert, B Kamien, CS Kasapkara, E Kiliç, K Boduroğlu, S Kurtoglu, AY Manzur, EE Onal, E Paderi, CH Roche, Russell Turner, S Unal, GE Utine, G Zanda, A Zankl, G Zampino, Giangiorgio Crisponi, Frank Rutsch

Human Mutation Wiley pages 424-33 vol. 35 (4) - march 2014 doi: 10.1002/humu.22522

Peer-reviewed publications in international events

[4-CLL14]

An Automated Infrastructure to Support High-throughput Bioinformatics

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Michele Muggiri, Andrea Pinna, Luca Pireddu, Paolo Uva, Andrea Angius, Giorgio Fotia, Gianluigi Zanetti

Proc. IEEE International Conference on High Performance Computing & Simulation (HPCS 2014) IEEE pages 600-607 Smari, Waleed W. and Zeljkovic, Vesna Eds. - july 2014
isbn: 978-1-4799-5313-4 doi: 10.1109/HPCSim.2014.6903742

[4-CCC14]

The role of mathematical modeling and genetic engineering for the microalgae based technology

Alessandro Concas, Cristina Costelli, Roberto Cusano, Massimiliano Orsini, Andrea Angius, Giacomo Cao

GPE 4th International Congress on Green Process Engineering GPE 4th International Congress on Green Process Engineering Sevilla, Spain - february 2014

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-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

[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

[2-1AJ13]

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]

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

[2-ELM13]

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Teresa Esposito, RA Lea, BH Maher, D Moses, HC Cox, S Magliocca, Andrea Angius, DR Nyholt, T Titus, T Kay, NA Gray, NP Rastaldi, A Pamham, Fernando Gianfrancesco, LR Griffiths

Human Molecular Genetics springer pages 3654-66 vol. 22 (18) - may 2013 doi: 10.1093/hmg/ddt215

[2-SCC13]

Insulin-like growth factor 1 (IGF-1) expression is up-regulated in lymphoblastoid cell lines of lithium responsive bipolar disorder patients.

Alessio Squassina, Marta Costa, Donatella Congiu, Andrea Angius, Valeria Deiana, Caterina Chillotti, Giovanni Severino, Stefano Calza, Maria Del Zompo

Pharmacol Research elsevier pages 1-7 vol. 73 - april 2013 doi: 10.1016/j.phrs.2013.04.004

[2-BPC13]

Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.

Ginevra Biino, Gianfranco Parati, Maria Pina Concas, Mauro Adamo, Andrea Angius, Simona Vaccargiu, Mario Pirastu

PLoS One PLoS One. 2013;8(3):e59612 pages 1-8 vol. 8 (3) num. e59612 - march 2013 doi: 10.1371/journal.pone.0059612

Peer-reviewed publications in international events

[4-CCO13]

Microalgae based technology for biofuels production and CO2 capture: the role of mathematical modeling and genetic engineering

Alessandro Concas, Roberto Cusano, Massimiliano Orsini, Cristina Costelli, Andrea Angius, Giacomo Cao

ATTI DEI CONVEGNI LINCEI 294 ACCADEMIA NAZIONALE DEI LINCEI Accademia dei Lincei, Convegno Internazionale LA SFIDA DEI TERAWATT: QUALE RICERCA PER L’ENERGIA DEL FUTURO? pages 153-160 Bardi Edizioni Rome, Italy - 2013
issn: 0391-805X
isbn: 978-88-218-1118-0

[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

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

[2-1AJ12]

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]

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]

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]

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]

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-SCM12]

A genome wide gene expression study suggests new candidate genes for lithium response in bipolar patients of Sardinian ancestry

Alessio Squassina, Donatella Congiu, Mirko Manchia, Andrea Angius, Valeria Deiana, Raffaela Ardau, Caterina Chillotti, Giovanni Severino, Stefano Calza, Maria Del Zompo, Marta Costa

XX World Congress of Psychiatric Genetics 2012, Hamburg, Germany, October 14 – 18 - 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-SMM12]

Genome-wide in vivo identification of mouse Foxl2 binding sites from ChIP-seq data.

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

Poster presentation (A12) at ECCB'12 - the European Conference on Computational Biology 9-12 September 2012 Basel, Switzerland. - 2012

[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-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-SSB11]

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]

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

Various talks, works and publications

[6-FCS11]

Caratterizzazione del genoma mitocondriale in Ogliastra (Sardegna)

C. Fraumene, M. Cosso, A. Sassu, G. Maninchedda, F. Serra, F. Marras, Paolo Ledda, Paolo Uva, Massimiliano Orsini, M. Pirastu, Alessandro Bulfone, Andrea Angius, Ignazio Piras

Poster presentation at the XIX Congresso dell'Associazione Antropologica Italiana, Torino, 21-24 September 2011 - september 2011

[6-ANG11]

High throughput genotyping and next generation sequencing: nuovi strumenti e strategie di analisi della ricerca genetica

Andrea Angius

“Collana di Seminari 2011 per la Valorizzazione dei Risultati della Ricerca al CRS4” Cagliari - february 2011

Publications en 2010

Peer-reviewed publications in International Journals

[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

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