CV Andrea Angius Gennaio 2014 CRS4

Andrea Angius
Curriculum Vitae
ANDREA ANGIUS
Curriculum Vitae et Studiorum
Titoli
2014 – Abilitazione Scientifica Nazionale in 05/I1 – Genetica e Microbiologia
1999 - Dottorato di Ricerca in Biochimica Comparata degli Ecosistemi, Università Studi di Sassari
1993 - Abilitazione all'esercizio della professione di Biologo
1992 - Laurea in Scienze Biologiche presso l'Università degli Studi di Cagliari
Posizioni e responsabilità lavorative
2013-2014 - Docente Corso Integrato di Diagnostica molecolare, Modulo di “Tecniche di Genotipizzazione
ed Espressione Genica”, Laurea Magistrale in Biotecnologie Sanitarie Mediche e Veterinarie, Facoltà di
Medicina Veterinaria in collaborazione con la Facoltà di Medicina e chirurgia dell'Università di Sassari,
Università degli Studi di Sassari
2013 - Docente Modulo 07 “Genetics and Technics of Genetic Characterization”, Master Universitario
internazionale di II livello denominato “International Master in Medical Biotechnology”, Hue University of
Medicine and Pharmacy, Vietnam, e Dipartimento di Scienze Biomediche Università degli Studi di Sassari
2012-2013; 2011-2012; 2010-2011 – Docente Corso Integrato di Diagnostica molecolare, Modulo di
“Tecniche di Genotipizzazione”, Laurea Magistrale in Biotecnologie Sanitarie Mediche e Veterinarie, Facoltà
di Medicina Veterinaria in collaborazione con la Facoltà di Medicina e chirurgia dell'Università di Sassari,
Università degli Studi di Sassari
2012-2013; 2011-2012; 2010-2011 – Docente Corso di “Genetica Medica”, Laurea Magistrale in Biologia
Sperimentale e Applicata, Facoltà di Scienze MM. FF. NN., Università degli Studi di Sassari
2010-2011; 2009-2010; 2008-2009; 2007-2008; 2006-2007 - Docente Corso di “Genetica Umana”, Laurea
Triennale Scienze Biologiche, Facoltà di Scienze MM. FF. NN., Università degli Studi di Sassari
2007- Docente al Master in R&S in Biotecnologie Mediche, Parco Tecnologico Sardegna Ricerche Ed. 2007
2002-2006 - Responsabile del Laboratorio della Società SHARDNA Spa, Cagliari.
2003-2004 – Docente Corso di “Genetica Fondamenti e Laboratorio”, Laurea Triennale Scienze Biologiche,
Facoltà di Scienze MM. FF. NN., Università degli Studi di Sassari
2011-oggi - Ricercatore a tempo indeterminato, Ist. Ricerca Genetica e Biomedica (IRGB) Monserrato, CA
2001-2011 - Ricercatore a tempo indeterminato, Istituto di Genetica delle Popolazioni CNR, Sassari
2000-2001 - Ricercatore a tempo determinato, Istituto di Genetica Molecolare CNR, Alghero
1996-1999 - Dottorando di Ricerca, IGM CNR, Alghero – Università di Sassari
1996 - Biologo Borsista, Lab. Patologia Molecolare – Ospedale Reg. per le Microcitemie Cagliari
1995-1996 - Borsista C.N.R., Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee, IRTAM, Cagliari
1992-1995 - Biologo Borsista, Lab. Patologia Molecolare – Ospedale Reg. per le Microcitemie Cagliari
Partecipazione scientifica a progetti di ricerca internazionali e nazionali, ammessi al
finanziamento sulla base di bandi competitivi
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Progetto: Fondo Telethon Fondazione Onlus per il Progetto " Post GWAS functional characterization of
BCL11A locus toward the development of a treatment for ß-thalassemia". Telethon Grant 2013
GGP13246 – Durata: 24 mesi - Ruolo Ricoperto: Responsabile Unità
Progetto: Ministero dell'Istruzione, dell'Università e della Ricerca. FIRB Laboratori 2003: Identificazione
di geni-malattia mediante genotipizzazione ad alta densità di popolazioni. - Durata: 72 mesi- Ruolo
Ricoperto: Responsabile
Progetto: Ministero dell'Istruzione, dell'Università e della Ricerca. "Identificazione di fattori genetici
associati a malattie multifattoriali comuni tramite un originale approccio allo studio di isolati genetici"
(Art. 5 del D.M. 593 8 agosto 2000) - Durata: 60 mesi- Ruolo Ricoperto: coordinatore gruppo di ricerca
Progetto: Fondo Telethon Fondazione Onlus per il Progetto "Sardinian Isolated Population For The
Study of Complex Traits". Telethon Grant E 1185– Durata: 36 mesi - Ruolo Ricoperto: collaboratore
Progetto: Regione Autonoma della Sardegna. "Studio della componente genetica e nutrizionale
nell'insorgenza di malattie complesse" POR Sardegna 2000-2006, deliberazione Giunta Regionale della
Sardegna n.27/30 del 7/08/2001. – Durata: 24 mesi. Ruolo Ricoperto: collaboratore
Progetto: Regione Autonoma della Sardegna "Identificazione di geni associati a malattie multifattoriali
con alto impatto socio-economico: Ipertensione arteriosa essenziale e Alopecia androgenetica".
Determinazione n. 107 del 22/06/2005. – Durata: 24 mesi. Ruolo Ricoperto: coordinatore gruppo di
ricerca
Progetto: Regione Autonoma della Sardegna “Metodologie computazionali ibride per l’analisi statistica
del flusso genico in grandi Dataset”.PON “Ricerca, Sviluppo Tecnologico ed Alta Formazione” 20002006 per le Regioni dell’ obiettivo 1 Decreto 192/Ric del 04/12/2007 – Durata: 18 mesi- Ruolo
Ricoperto: collaboratore
Progetto: Regione Autonoma della Sardegna “Infrastruttura bioinformatica per un approccio “system
biology” alle malattie complesse”. Programma di R&S "Tecnologie bio-informatiche applicate alla
medicina personalizzata" Bando di selezione N. 364.173 A – Durata: 20 mesi- Ruolo Ricoperto:
collaboratore
1
Memberships e attività di reviewer
E’ membro ordinario della Società Italiana dell’Ipertensione Arteriosa e dell’American Society of Human
Genetics. Svolge attività di reviewer per Journal of Medical Genetics, Journal of Endocrinological
Investigation, American Journal of Human Genetics, BMC Medical Genetics, PloS ONE Journal, Nutrition,
Metabolism & Cardiovascular Diseases, Gene, Chemical Senses, Hypertension e Human Genetics.
Invited Lectures
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A Angius. High throughput genotyping e next generation sequencing: nuovi approcci integrati e
applicazioni. Corso di Perfezionamento in "Nuove tecnologie in medicina molecolare", Università degli
Studi di Padova, 8 febbraio 2013
A Angius. Whole Genome Sequencing of 1000 Individuals in the Sardinian founder population.
Seminario Next Generation Sequencing Illumina. Università degli Studi di Cagliari, 27 Marzo 2012.
A Angius. High throughput genotyping and next generation sequencing: Mappaggio di varianti geniche
predisponenti nelle malattie complesse. Corso di formazione in "Tecniche strumentali applicate alle
biotecnologie". Porto Conte Ricerche Loc. Tramariglio – Alghero (SS) 16 Dicembre, 2009
A Angius. Genotyping of a large Sardinian cohort: an experience with Genome-Wide Human SNP Array
6.0. Integrated Genomics Seminar Series. Università degli Studi di Modena, 9 Settembre 2008.
A Angius. Affymetrix GeneChip high-throughput SNPs analysis: identification of genetic parameters and
application to association studies. Giornata di seminari su “Gestione e Analisi di Dati di Microarray”
Parco Tecnologico Sardegna Ricerche, Edificio 2, Sala conferenze. Pula 23 Aprile 2007.
A Angius. Lo studio delle malattie complesse tramite gli isolati genetici: nuovi sviluppi nello study
design. Istituto Internazionale di Genetica e Biofisica "Adriano Buzzati-Traverso", CNR. Napoli 25
Settembre 2006.
A Angius. Identification of risk factors for cardiovascular diseases in Sardinian genetic isolates.
Bioforum 2006, Università Statale di Milano, 19 September 2006.
A Angius. The analysis of an isolated population: the Sardinian experience. College de France, La
Sorbone, Séminaire de la Chaire de Médecine Expérimentale, Genetics of Arterial Hypertension:
Lessons from the Last Ten Years., 25April 2006.
A Angius. A multifaceted approach to the understanding of complex traits in Sardinia genetic isolates.
Human Genetics Speaker Series – Fall Quarter 2005 Department of Human Genetics - David Geffen
School of Medicine at University of California, Los Angeles, 31 October 2005.
A Angius. SNPlex™ technology: a genotyping platform for analysing isolated populations. European
SNPlex™ System User Meeting, Applied Biosystems, Paris, 18-19 April 2005.
Pubblicazioni scientifiche e Comunicazioni e relazioni a congressi
Durante gli anni dell’attività di ricerca il Dr. Angius ha pubblicato più di 50 articoli scientifici su varie riviste
internazionali, ha collaborato con alcuni capitoli alla stesura di libri ed ha partecipato con comunicazioni e
relazioni a più di 80 congressi internazionali e nazionali.
Average Impact Factor 8,99
Total Impact Factor
425,92
H-Index 24
Riviste Internazionali
1. G Loudianos, AL Figus, A Loi, A Angius, V Dessì, M Deiana, S DeVirgiliis, G Monni, A Cao, M Pirastu.
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. Prenat Diagn 1994; 14:
999-1002.
2. AL Figus, A Angius, G Loudianos, C Bertini, V Dessì, A Loi, M Deiana, M Lovicu, N Olla, G Sole, S De
Virgiliis, F Lilliu, A Farci, A Nurchi, R Giacchino, A Barabino, MG Marassi, L Zancan, NA Greggio, M
Marcellini, A Solinas, A Deplano, C Barbera, M Devoto, S Ozsoylu, N Kocak, N Akar, S Karayalcin, V
Mokini, P Cullufi, A Balestrieri, A Cao and M Pirastu. Molecular pathology and haplotype analysis of Wilson's
disease in Mediterranean populations. Am J Hum Genet 1995; 57: 1318-1324.
3. G Loudianos, V Dessì, A Angius, M Lovicu, A Loi, M Deiana, N Akar, P Vairo, A Figus, A Cao, M
Pirastu. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum
Genet 1996; 98: 640-642.
4. A Angius, V Dessì, M Lovicu, S De Virgiliis, M Pirastu, A Cao. Early and severe neurological features
in a Wilson disease patient compound heterozygous for two frameshift mutations. Eur J Pediatr 1998; 157:
128-129.
5. G Loudianos, V Dessì, M Lovicu, A Angius, A Cao, M Pirastu. The –75 A→C substitution in the 5’ UTR
of the Wilson disease gene is a sequence polymorphism in the Mediterranean population. Am J Hum Genet
1998; 62 (2): 581.
6. A Angius, E De Gioia, A Loi, M Fossarello, G Sole, N Orzalesi, F Grignolo, A Cao, M Pirastu. A novel
mutation in the GLC1A gene causes Juvenile Open Angle Glaucoma in four families from the Italian region
of Puglia. Arch Ophthalmol 1998; 116: 793-797.
7. G Loudianos, V Dessì, M Lovicu, A Angius, S De Virgiliis, A Nurchi, A Solinas, M Marcellini, L Zancan,
C Barbera, N Akar, R Yagci, A Vegnente, A Cao, M Pirastu. Further delineation of the molecular pathology
of Wilson disease in the Mediterranean population. Hum Mutat 1998; 12: 89-94.
2
8. C Nobile, A Manca, M Pisano, A Angius, R Muresu, IC Gray, NK Spurr. A refined physical and EST
map spanning 7.4 Mb of 10q24, a region involved in neurological disorders. Mamm Genome 1998; 9 (10):
835-837.
9. Loudianos G, Dessi V, Lovicu M, Angius A, Kanavakis E, Tzetis M, Kattamis C, Manolaki N, Vassiliki
G, Karpathios T, Cao A, Pirastu M. Haplotype and mutation analysis in Greek patients with Wilson disease.
Eur J Hum Genet 1998; 6: 487-91.
10. A Angius, M Pisano, A Manca, G Casu, I Persico, S Pitzalis, E De Gioia, F Grignolo, A Loi, G Sole, A
Cao, P Spinelli, G Ghillotti , L Bonomi, M Fossarello, A Serra, S Gandolfi, G Alberti, G Maraini, A Serru, N
Orzalesi, M Pirastu. Molecular basis of open-angle glaucoma in Italy. Acta Ophthalmol Scand Suppl 1998;
(227): 16-7.
11. G Loudianos, V Dessì, M Lovicu, A Angius, AL Figus, F Lilliu, S De Virgiliis, A Nurchi, A Deplano, M
Pirastu, A Cao. Molecular characterization of Wilson disease in the Sardinian population. Evidence of a
founder effect. Hum Mutat 1999; 14 (4): 294-303.
12. G Loudianos, V Dessi, M Lovicu, A Angius, B Altuntas, R Giacchino, M Marazzi, M Marcellini, MR
Sartorelli, GC Sturniolo, N Kocak, A Yuce, N Akar, M Pirastu, A Cao. Mutation analysis in patients of
Mediterranean descent with Wilson disease. Identification of 19 novel mutations. J Med Genet 1999; 36
(11): 833-836.
13. G Loudianos, V Dessi, M Lovicu, A Angius, M Pirastu, A Cao. Haplotype and mutation analysis in
Mediterranean patients with Wilson disease. J Trace Elem in Exp Med 1999; 12: 315-319.
14. M Pisano, A Cossu, I Persico, G Palmieri, A Angius, G Casu, G Palomba, M G Sarobba, P Cossu
Rocca, MF Dedola, N Olmeo, A Pasca, M Budroni, V Marras, A Pisano, A Farris, G Massarelli, M Pirastu, F
Tanda. Identification of a founder BRCA2 mutation in Sardinia. Br J Cancer 2000; 82 (3): 553-9.
15. G Palomba, C Rozzo, A Angius, N Orzalesi, M Pirastu. A novel spontaneous missense mutation in
VMD2 gene is cause of a Best’s macular dystrophy (BMD) sporadic case. Am J Ophthalmol 2000; 129 (2):
260-2.
16. A Angius, P Spinelli, G Ghilotti, G Casu, G Sole, A Loi, A Totaro, L Zelante, P Gasparini, N Orzalesi, M
Pirastu, L Bonomi. TIGR Gln368stop defect and advanced age are two risk factors in a large late onset
POAG family. Arch Ophthalmol 2000; 118 (5): 674-9.
17. A Angius, P Forabosco, G Maestrale, G Casu, D Piras, A Pala, M Palermo, P Melis, M Pirastu.
Genome-wide screen for essential hypertension genes in a deep rooted Sardinian pedigree. Ann Hum
Genet, 2000; 64 (5): 475-476.
18. Ombra MN, Forabosco P, Casula S, Angius A, Maestrale GB, Petretto E, Casu G, Colussi G, Usai E,
Melis P, Pirastu M Identification of a new candidate locus for uric acid nephrolithiasis in a genetic isolate. Am
J Hum Genet 2001; 68: 1119-1129.
19. A Angius, PM Melis, L Morelli, E Petretto, G Casu, GB Maestrale, C Fraumene, D Bebbere, P
Forabosco , M Pirastu Archival, demographic and genetic studies define a Sardinian sub-isolate as a
suitable model for mapping complex traits. Hum Genet 2001; 109 (2): 198-209. IF: 3.209
20. E Vitale, C Specchia, M Devoto, A Angius, S Rong, M Rocchi, M Schwalb, L Demelas, D Paglietti, S
Manca, C Mastropaolo, G Serra. Novel X-Linked mental retardation syndrome with short stature maps to
Xq24. Am J Med Genet 2001; 103 (1): 1-8.
21. A Angius, D Bebbere, E Petretto, M Falchi, P Forabosco, GB Maestrale, G Casu, I Persico, PM Melis,
M Pirastu. Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in
Sardinian sub-populations. Hum Genet. 2002; 111 (1): 9-15.
22. A Angius, E Petretto, GB Maestrale, P Forabosco, G Casu, D Piras, M Fanciulli, M Falchi, PM Melis, M
Palermo, M Pirastu. A new essential Hypertension susceptibility locus on chromosome 2p24-25 detected by
genome-wide search. Am J Hum Genet. 2002; 71 (4): 893-905.
23. R Barone, L Malaguarnera, A Angius, S Musumeci. Plasma Chitotriosidase activity in patients with
beta-thalassemia. Am J Haemat 2003; 72 (4): 285-286.
24. C Fraumene, E Petretto, A Angius, M Pirastu. Striking differentiation of sub-populations within a
genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Hum Genet 2003;
114 (1): 1-10.
25. L Malaguarnera, J Simporè, DA Prodi, A Angius, A Sassu, I Persico, R Barone, S Musumeci. A 24base pair duplication in exon 10 of Human Chitotriosidase gene from the sub-Saharan to the Mediterranean
area: role of parasitic diseases and environmental conditions. Genes Immun 2003; 4 (8): 570-4.
26. A Tenesa, AF Wright, SA Knott, C Carothers, C Hayward, A Angius, I Persico, GB Maestrale, ND
Hastie, M Pirastu, SS Visscher. Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and
methodological considerations. Hum Mol Genet 2004, 13 (1): 25-33.
27. DA Prodi, D Drayna, P Forabosco, MA Palmas, GB Maestrale, D Piras, M Pirastu, A Angius. Bitter
taste study in a Sardinian Genetic Isolate supports the association of phenylthiocarbamide sensitivity to the
TAS2R38 bitter receptor gene. Chem Senses 2004; 29(8):697-702.
28. L Malaguarnera, R Barone, A Angius, S Musumeci. Chitotriosidase, a prematurely orphan enzyme.
Hum Evol, 2004, 19 (1): 71-75
29. M Falchi, P Forabosco, E Mocci, C Cappio Borlino, A Picciau, E Virdis, I Persico, D Parracciani, A
Angius, M Pirastu. Genome-wide search using an original pairwise sampling approach for large
genealogies identifies a new locus for total and LDL-cholesterol in two genetically differentiated, isolates of
Sardinia. Am J Hum Genet 2004; 75(6):1015-31.
30. M Musumeci, J Simporè, R Barone, A Angius, L Malaguarnera, S Musumeci. Synchronic macrophage
response and Plasmodium falciparum malaria. Pak J Biol Sci 2005 8 (7): 954-958.
3
31. J Simporè, A Angius, I Persico, A Sassu, DA Prodi, S Musumeci. Methylenetatrahydrofolate reductase
gene polymorphisms in Burkina Faso. Clin Chim Acta. 2005; 360(1-2): 199-200.
32. R Chillemi, A Angius, I Persico, A Sassu, DA Prodi, S Musumeci. Methylenetatrahydrofolate reductase
(MTHFR) from Mediterranean to Sub-Saharan Areas. J Biol Sciences 2005: 6 (1): 28-34.
33. M Musumeci, J Simpore, R Barone, A Angius, S Musumeci. Synchronic macrophage response and
Plasmodium falciparum malaria. J Vect Borne Dis 2006, 43: 84–87.
34. C Fraumene, EMS Belle, L Castrì, S Sanna, G Mancosu, M Cosso, F Marras, G Barbujani, M Pirastu, A
Angius. High resolution analysis and phylogenetic network construction using complete mtDNA sequences
in Sardinian genetic isolates. Mol Biol Evol.2006; 23: 2101-2111.
35. A Angius, J Simpore, I Persico, A Sassu, DA Prodi, S Musumeci. Methylenetetrahydrofolate reductase
gene polymorphisms in Burkina Faso: impact on plasma fasting homocysteine and after methionine loading
test. Clin Lab 2007; 53:29-33.
36. A Angius, FCL Hyland, I Persico, N Pirastu, T Woodage, M Pirastu, FM De La Vega Patterns of
Linkage Disequilibrium between SNPs in a Sardinian population isolate and the selection of markers for
association studies. Hum Hered 2008;65(1):9-22.
37. S Sotgiu, A Angius, A Embry, G Rosati, S Musumeci. Hygiene hypothesis: innate immunity, malaria
and multiple sclerosis. Med Hypotheses. 2008;70(4):819-25.
38. DA Prodi, N Pirastu, G Maninchedda, A Sassu, A Picciau, MA Palmas, A Mossa, I Persico, M Adamo, A
Angius, Pirastu M. EDA2R Is Associated with Androgenetic Alopecia. J Invest Dermatol. 2008 Apr 3.
39. G Pistis, I Piras, N Pirastu, I Persico, A Sassu, A Picciau, D Prodi, C Fraumene, E Mocci, MT Manias, R
Atzeni, M Cosso, M Pirastu, A Angius .High differentiation among eight villages in a secluded area of
Sardinia revealed by genome-wide high density SNPs analysis. PLoS One. 2009;4(2):e4654. Epub 2009
Feb 27.
40. Vago L, Perna SK, Zanussi M, Mazzi B, Barlassina C, Stanghellini MT, Perrelli NF, Cosentino C, Torri
F, Angius A, Forno B, Casucci M, Bernardi M, Peccatori J, Corti C, Bondanza A, Ferrari M, Rossini S,
Roncarolo MG, Bordignon C, Bonini C, Ciceri F, Fleischhauer K. Genomic loss of mismatched HLA in
leukemia is a major mechanism of in vivo escape from T cell immunosurveillance following haploidentical
HSCT. N Engl J Med. 2009 Jul 30;361(5):478-88.
41. E Mocci, MP Concas, M Fanciulli, N Pirastu, M Adamo, C Valentina, C Fraumene, I Persico, A Sassu, A
Picciau, D Prodi, D Serra, G Biino,M Pirastu, A Angius. Microsatellites and SNPs linkage analysis in a
Sardinian genetic isolate confirms several essential hypertension loci previously identified in different
populations. BMC Med Genet. 2009 Aug 28;10:81.
42. Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A,
Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu
E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S,
Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D,
Cucca F. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat
Genet. 2010 Jun;42(6):495-7.
43. Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE,
Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C,
Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry ST, Wang J, Wilson RK,
Gibbs RA, Dinh H, Kovar C, Lee S, Lewis L, Muzny D, Reid J, Wang M, Wang J, Fang X, Guo X, Jian M,
Jiang H, Jin X, Li G, Li J, Li Y, Li Z, Liu X, Lu Y, Ma X, Su Z, Tai S, Tang M, Wang B, Wang G, Wu H, Wu R,
Yin Y, Zhang W, Zhao J, Zhao M, Zheng X, Zhou Y, Lander ES, Altshuler DM, Gabriel SB, Gupta N, Flicek
P, Clarke L, Leinonen R, Smith RE, Zheng-Bradley X, Bentley DR, Grocock R, Humphray S, James T,
Kingsbury Z, Lehrach H, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA, Lienhard M, Mertes F,
Sultan M, Timmermann B, Yaspo ML, Sherry ST, McVean GA, Mardis ER, Wilson RK, Fulton L, Fulton R,
Weinstock GM, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb-Kokocinski A,
McCarthy S, Stalker J, Quail M, Schmidt JP, Davies CJ, Gollub J, Webster T, Wong B, Zhan Y, Auton A,
Gibbs RA, Yu F, Bainbridge M, Challis D, Evani US, Lu J, Muzny D, Nagaswamy U, Reid J, Sabo A, Wang
Y, Yu J, Wang J, Coin LJ, Fang L, Guo X, Jin X, Li G, Li Q, Li Y, Li Z, Lin H, Liu B, Luo R, Qin N, Shao H,
Wang B, Xie Y, Ye C, Yu C, Zhang F, Zheng H, Zhu H, Marth GT, Garrison EP, Kural D, Lee WP, Leong
WF, Ward AN, Wu J, Zhang M, Lee C, Griffin L, Hsieh CH, Mills RE, Shi X, von Grotthuss M, Zhang C, Daly
MJ, DePristo MA, Altshuler DM, Banks E, Bhatia G, Carneiro MO, del Angel G, Gabriel SB, Genovese G,
Gupta N, Handsaker RE, Hartl C, Lander ES, McCarroll SA, Nemesh JC, Poplin RE, Schaffner SF, Shakir K,
Yoon SC, Lihm J, Makarov V, Jin H, Kim W, Kim KC, Korbel JO, Rausch T, Flicek P, Beal K, Clarke L,
Cunningham F, Herrero J, McLaren WM, Ritchie GR, Smith RE, Zheng-Bradley X, Clark AG, Gottipati S,
Keinan A, Rodriguez-Flores JL, Sabeti PC, Grossman SR, Tabrizi S, Tariyal R, Cooper DN, Ball EV,
Stenson PD, Bentley DR, Barnes B, Bauer M, Cheetham R, Cox T, Eberle M, Humphray S, Kahn S, Murray
L, Peden J, Shaw R, Ye K, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Sudbrak R,
Amstislavskiy VS, Herwig R, Shriver MD, Bustamante CD, Byrnes JK, De La Vega FM, Gravel S, Kenny EE,
Kidd JM, Lacroute P, Maples BK, Moreno-Estrada A, Zakharia F, Halperin E, Baran Y, Craig DW,
Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Sherry ST, Xiao C, Sebat J, Bafna V,
Ye K, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent WJ, Howie B, Ruiz-Linares
A, Dermitzakis ET, Lappalainen T, Devine SE, Liu X, Maroo A, Tallon LJ, Rosenfeld JA, Michelson LP,
Abecasis GR, Kang HM, Anderson P, Angius A, Bigham A, Blackwell T, Busonero F, Cucca F, Fuchsberger
C, Jones C, Jun G, Li Y, Lyons R, Maschio A, Porcu E, Reinier F, Sanna S, Schlessinger D, Sidore C, Tan
A, Trost MK, Awadalla P, Hodgkinson A, Lunter G, McVean GA, Marchini JL, Myers S, Churchhouse C,
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Delaneau O, Gupta-Hinch A, Iqbal Z, Mathieson I, Rimmer A, Xifara DK, Oleksyk TK, Fu Y, Liu X, Xiong M,
Jorde L, Witherspoon D, Xing J, Eichler EE, Browning BL, Alkan C, Hajirasouliha I, Hormozdiari F, Ko A,
Sudmant PH, Mardis ER, Chen K, Chinwalla A, Ding L, Dooling D, Koboldt DC, McLellan MD, Wallis JW,
Wendl MC, Zhang Q, Durbin RM, Hurles ME, Tyler-Smith C, Albers CA, Ayub Q, Balasubramaniam S, Chen
Y, Coffey AJ, Colonna V, Danecek P, Huang N, Jostins L, Keane TM, Li H, McCarthy S, Scally A, Stalker J,
Walter K, Xue Y, Zhang Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Habegger
L, Harmanci AO, Jin M, Khurana E, Mu XJ, Sisu C, Li Y, Luo R, Zhu H, Lee C, Griffin L, Hsieh CH, Mills RE,
Shi X, von Grotthuss M, Zhang C, Marth GT, Garrison EP, Kural D, Lee WP, Ward AN, Wu J, Zhang M,
McCarroll SA, Altshuler DM, Banks E, del Angel G, Genovese G, Handsaker RE, Hartl C, Nemesh JC,
Shakir K, Yoon SC, Lihm J, Makarov V, Degenhardt J, Flicek P, Clarke L, Smith RE, Zheng-Bradley X,
Korbel JO, Rausch T, Stütz AM, Bentley DR, Barnes B, Cheetham R, Eberle M, Humphray S, Kahn S,
Murray L, Shaw R, Ye K, Batzer MA, Konkel MK, Walker JA, Lacroute P, Craig DW, Homer N, Church D,
Xiao C, Sebat J, Bafna V, Michaelson JJ, Ye K, Devine SE, Liu X, Maroo A, Tallon LJ, Lunter G, Iqbal Z,
Witherspoon D, Xing J, Eichler EE, Alkan C, Hajirasouliha I, Hormozdiari F, Ko A, Sudmant PH, Chen K,
Chinwalla A, Ding L, McLellan MD, Wallis JW, Hurles ME, Blackburne B, Li H, Lindsay SJ, Ning Z, Scally A,
Walter K, Zhang Y, Gerstein MB, Abyzov A, Chen J, Clarke D, Khurana E, Mu XJ, Sisu C, Gibbs RA, Yu F,
Bainbridge M, Challis D, Evani US, Kovar C, Lewis L, Lu J, Muzny D, Nagaswamy U, Reid J, Sabo A, Yu J,
Guo X, Li Y, Wu R, Marth GT, Garrison EP, Leong WF, Ward AN, del Angel G, DePristo MA, Gabriel SB,
Gupta N, Hartl C, Poplin RE, Clark AG, Rodriguez-Flores JL, Flicek P, Clarke L, Smith RE, Zheng-Bradley
X, MacArthur DG, Bustamante CD, Gravel S, Craig DW, Christoforides A, Homer N, Izatt T, Sherry ST, Xiao
C, Dermitzakis ET, Abecasis GR, Kang HM, McVean GA, Mardis ER, Dooling D, Fulton L, Fulton R, Koboldt
DC, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Gerstein MB, Balasubramanian S,
Habegger L, Garrison EP, Gibbs RA, Bainbridge M, Muzny D, Yu F, Yu J, del Angel G, Handsaker RE,
Makarov V, Rodriguez-Flores JL, Jin H, Kim W, Kim KC, Flicek P, Beal K, Clarke L, Cunningham F, Herrero
J, McLaren WM, Ritchie GR, Zheng-Bradley X, Tabrizi S, MacArthur DG, Lek M, Bustamante CD, De La
Vega FM, Craig DW, Kurdoglu AA, Lappalainen T, Rosenfeld JA, Michelson LP, Awadalla P, Hodgkinson A,
McVean GA, Chen K, Tyler-Smith C, Chen Y, Colonna V, Frankish A, Harrow J, Xue Y, Gerstein MB,
Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Harmanci AO, Jin M, Khurana E, Mu XJ, Sisu C,
Gibbs RA, Fowler G, Hale W, Kalra D, Kovar C, Muzny D, Reid J, Wang J, Guo X, Li G, Li Y, Zheng X,
Altshuler DM, Flicek P, Clarke L, Barker J, Kelman G, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan
R, Roa A, Smirnov D, Smith RE, Streeter I, Toneva I, Vaughan B, Zheng-Bradley X, Bentley DR, Cox T,
Humphray S, Kahn S, Sudbrak R, Albrecht MW, Lienhard M, Craig DW, Izatt T, Kurdoglu AA, Sherry ST,
Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Church D, Cohen R, Cook C, Garner J, Hefferon T,
Kimelman M, Liu C, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S, Schneider V,
Shekhtman E, Sirotkin K, Slotta D, Xiao C, Zhang H, Haussler D, Abecasis GR, McVean GA, Alkan C, Ko A,
Dooling D, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Chakravarti A, Knoppers
BM, Abecasis GR, Barnes KC, Beiswanger C, Burchard EG, Bustamante CD, Cai H, Cao H, Durbin RM,
Gharani N, Gibbs RA, Gignoux CR, Gravel S, Henn B, Jones D, Jorde L, Kaye JS, Keinan A, Kent A,
Kerasidou A, Li Y, Mathias R, McVean GA, Moreno-Estrada A, Ossorio PN, Parker M, Reich D, Rotimi CN,
Royal CD, Sandoval K, Su Y, Sudbrak R, Tian Z, Timmermann B, Tishkoff S, Toji LH, Tyler-Smith C, Via M,
Wang Y, Yang H, Yang L, Zhu J, Bodmer W, Bedoya G, Ruiz-Linares A, Ming CZ, Yang G, You CJ,
Peltonen L, Garcia-Montero A, Orfao A, Dutil J, Martinez-Cruzado JC, Oleksyk TK, Brooks LD, Felsenfeld
AL, McEwen JE, Clemm NC, Duncanson A, Dunn M, Green ED, Guyer MS, Peterson JL. An integrated map
of genetic variation from 1,092 human genomes. Nature 2012 Nov;491(7422):56-65.
44. Biino G, Parati G, Concas MP, Adamo M, Angius A, Vaccargiu S, Pirastu M. Enviromental and genetic
contribution to hypertension: prevalence: data from and epidemiological survey on Sardinian genetic
isolates. PLoS One. 2013;8(3):e59612. doi: 10.1371/journal.pone.0059612. Epub 2013 Mar 20.
45. Squassina A, Costa M, Congiu D, Manchia M, Angius A, Deiana V, Ardau R, Chillotti C, Severino G,
Calza S, Del Zompo M. Insulin-like growth factor 1 (IGF-1) expression is up-regulated in lymphoblastoid cell
lines of lithium responsive bipolar disorder patients. Pharmacol Res. 2013 Apr 22. doi:pii: S10436618(13)00072-8.
46. Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T,
Gray NA, Parnham A, Gianfrancesco F, Griffiths LR. Unique X-linked familial FSGS with co-segregating heart
block disorder is associated with a mutation in the NXF5 gene. Hum Mol Genet. 2013 Sep 15;22(18):365466. doi: 10.1093/hmg/ddt215.
47. Francalacci P, Morelli L, Angius A, Berutti R, Reinier F, Atzeni R, Pilu R, Busonero F, Maschio A, Zara I,
Sanna D, Useli A, Urru MF, Marcelli M, Cusano R, Oppo M, Zoledziewska M, Pitzalis M, Deidda F, Porcu E,
Poddie F, Kang HM, Lyons R, Tarrier B, Gresham JB, Li B, Tofanelli S, Alonso S, Dei M, Lai S, Mulas A,
Whalen MB, Uzzau S, Jones C, Schlessinger D, Abecasis GR, Sanna S, Sidore C, Cucca F. Large-scale lowcoverage sequencing from the highly informative Sardinian population permits reconstruction of Y
chromosome phylogeny at the European continental level. Science. 2013 Aug 2;341(6145):565-9. doi:
10.1126/science.1237947.
48. Orrù V, Steri M, Sole G, Sidore C, Virdis F, Dei M, Lai S, Zoledziewska M, Busonero F, Mulas A, Floris M,
Mentzen WI, Urru SA, Olla S, Marongiu M, Piras MG, Lobina M, Maschio A, Pitzalis M, Urru MF, Marcelli M,
Cusano R, Deidda F, Serra V, Oppo M, Pilu R, Reinier F, Berutti R, Pireddu L, Zara I, Porcu E, Kwong A,
Brennan C, Tarrier B, Lyons R, Kang HM, Uzzau S, Atzeni R, Valentini M, Firinu D, Leoni L, Rotta G, Naitza S,
Angius A, Congia M, Whalen MB, Jones CM, Schlessinger D, Abecasis GR, Fiorillo E, Sanna S, Cucca F.
5
Genetic Variants Regulating Immune Cell Levels in Health and Disease. Cell. 2013 Sep 26;155(1):242-56.
doi: 10.1016/j.cell.2013.08.041.
49. Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J,
Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D,
Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J,
Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie
GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis
ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin
RM, Handsaker RE, McVean GA. Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark
AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel
JO, Lander ES, Lee C, Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry
ST, Wang J, Wilson RK, Gibbs RA, Dinh H, Kovar C, Lee S, Lewis L, Muzny D, Reid J, Wang M, Wang J,
Fang X, Guo X, Jian M, Jiang H, Jin X, Li G, Li J, Li Y, Li Z, Liu X, Lu Y, Ma X, Su Z, Tai S, Tang M, Wang
B, Wang G, Wu H, Wu R, Yin Y, Zhang W, Zhao J, Zhao M, Zheng X, Zhou Y, Lander ES, Altshuler DM,
Gabriel SB, Gupta N, Flicek P, Clarke L, Leinonen R, Smith RE, Zheng-Bradley X, Bentley DR, Grocock R,
Humphray S, James T, Kingsbury Z, Lehrach H, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA,
Lienhard M, Mertes F, Sultan M, Timmermann B, Yaspo ML, Sherry ST, McVean GA, Mardis ER, Wilson
RK, Fulton L, Fulton R, Weinstock GM, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM,
Kolb-Kokocinski A, McCarthy S, Stalker J, Quail M, Schmidt JP, Davies CJ, Gollub J, Webster T, Wong B,
Zhan Y, Auton A, Gibbs RA, Yu F, Bainbridge M, Challis D, Evani US, Lu J, Muzny D, Nagaswamy U, Reid
J, Sabo A, Wang Y, Yu J, Wang J, Coin LJ, Fang L, Guo X, Jin X, Li G, Li Q, Li Y, Li Z, Lin H, Liu B, Luo R,
Qin N, Shao H, Wang B, Xie Y, Ye C, Yu C, Zhang F, Zheng H, Zhu H, Marth GT, Garrison EP, Kural D, Lee
WP, Leong WF, Ward AN, Wu J, Zhang M, Lee C, Griffin L, Hsieh CH, Mills RE, Shi X, von Grotthuss M,
Zhang C, Daly MJ, DePristo MA, Altshuler DM, Banks E, Bhatia G, Carneiro MO, del Angel G, Gabriel SB,
Genovese G, Gupta N, Handsaker RE, Hartl C, Lander ES, McCarroll SA, Nemesh JC, Poplin RE, Schaffner
SF, Shakir K, Yoon SC, Lihm J, Makarov V, Jin H, Kim W, Kim KC, Korbel JO, Rausch T, Flicek P, Beal K,
Clarke L, Cunningham F, Herrero J, McLaren WM, Ritchie GR, Smith RE, Zheng-Bradley X, Clark AG,
Gottipati S, Keinan A, Rodriguez-Flores JL, Sabeti PC, Grossman SR, Tabrizi S, Tariyal R, Cooper DN, Ball
EV, Stenson PD, Bentley DR, Barnes B, Bauer M, Cheetham R, Cox T, Eberle M, Humphray S, Kahn S,
Murray L, Peden J, Shaw R, Ye K, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Sudbrak R,
Amstislavskiy VS, Herwig R, Shriver MD, Bustamante CD, Byrnes JK, De La Vega M, Gravel S, Kenny EE,
Kidd JM, Lacroute P, Maples BK, Moreno-Estrada A, Zakharia F, Halperin E, Baran Y, Craig DW,
Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Sherry ST, Xiao C, Sebat J, Bafna V,
Ye K, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent W, Howie B, Ruiz-Linares
A, Dermitzakis ET, Lappalainen T, Devine SE, Liu X, Maroo A, Tallon LJ, Rosenfeld JA, Michelson LP,
Abecasis GR, Kang HM, Anderson P, Angius A, Bigham A, Blackwell T, Busonero F, Cucca F, Fuchsberger
C, Jones C, Jun G, Li Y, Lyons R, Maschio A, Porcu E, Reinier F, Sanna S, Schlessinger D, Sidore C, Tan
A, Trost MK, Awadalla P, Hodgkinson A, Lunter G, McVean GA, Marchini JL, Myers S, Churchhouse C,
Delaneau O, Gupta-Hinch A, Iqbal Z, Mathieson I, Rimmer A, Xifara DK, Oleksyk TK, Fu Y, Liu X, Xiong M,
Jorde L, Witherspoon D, Xing J, Eichler EE, Browning BL, Alkan C, Hajirasouliha I, Hormozdiari F, Ko A,
Sudmant PH, Mardis ER, Chen K, Chinwalla A, Ding L, Dooling D, Koboldt DC, McLellan MD, Wallis JW,
Wendl MC, Zhang Q, Durbin RM, Hurles ME, Tyler-Smith C, Albers CA, Ayub Q, Balasubramaniam S, Chen
Y, Coffey AJ, Colonna V, Danecek P, Huang N, Jostins L, Keane TM, Li H, McCarthy S, Scally A, Stalker J,
Walter K, Xue Y, Zhang Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Habegger
L, Harmanci AO, Jin M, Khurana E, Mu XJ, Sisu C, Li Y, Luo R, Zhu H, Lee C, Griffin L, Hsieh CH, Mills RE,
Shi X, von Grotthuss M, Zhang C, Marth GT, Garrison EP, Kural D, Lee WP, Ward AN, Wu J, Zhang M,
McCarroll SA, Altshuler DM, Banks E, del Angel G, Genovese G, Handsaker RE, Hartl C, Nemesh JC,
Shakir K, Yoon SC, Lihm J, Makarov V, Degenhardt J, Flicek P, Clarke L, Smith RE, Zheng-Bradley X,
Korbel JO, Rausch T, Stütz AM, Bentley DR, Barnes B, Cheetham R, Eberle M, Humphray S, Kahn S,
Murray L, Shaw R, Ye K, Batzer MA, Konkel MK, Walker JA, Lacroute P, Craig DW, Homer N, Church D,
Xiao C, Sebat J, Bafna V, Michaelson JJ, Ye K, Devine SE, Liu X, Maroo A, Tallon LJ, Lunter G, McVean
GA, Iqbal Z, Witherspoon D, Xing J, Eichler EE, Alkan C, Hajirasouliha I, Hormozdiari F, Ko A, Sudmant PH,
Chen K, Chinwalla A, Ding L, McLellan MD, Wallis JW, Hurles ME, Blackburne B, Li H, Lindsay SJ, Ning Z,
Scally A, Walter K, Zhang Y, Gerstein MB, Abyzov A, Chen J, Clarke D, Khurana E, Mu XJ, Sisu C, Gibbs
RA, Yu F, Bainbridge M, Challis D, Evani US, Kovar C, Lewis L, Lu J, Muzny D, Nagaswamy U, Reid J,
Sabo A, Yu J, Guo X, Li Y, Wu R, Marth GT, Garrison EP, Leong WF, Ward AN, del Angel G, DePristo MA,
Gabriel SB, Gupta N, Hartl C, Poplin RE, Clark AG, Rodriguez-Flores JL, Flicek P, Clarke L, Smith RE,
Zheng-Bradley X, MacArthur DG, Bustamante CD, Gravel S, Craig DW, Christoforides A, Homer N, Izatt T,
Sherry ST, Xiao C, Dermitzakis ET, Abecasis GR, Kang HM, McVean GA, Mardis ER, Dooling D, Fulton L,
Fulton R, Koboldt DC, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Gerstein MB,
Balasubramanian S, Habegger L, Garrison EP, Gibbs RA, Bainbridge M, Muzny D, Yu F, Yu J, del Angel G,
Handsaker RE, Makarov V, Rodriguez-Flores JL, Jin H, Kim W, Kim KC, Flicek P, Beal K, Clarke L,
Cunningham F, Herrero J, McLaren WM, Ritchie GR, Zheng-Bradley X, Tabrizi S, MacArthur DG, Lek M,
Bustamante CD, De La Vega FM, Craig DW, Kurdoglu AA, Lappalainen T, Rosenfeld JA, Michelson LP,
Awadalla P, Hodgkinson A, McVean GA, Chen K, Tyler-Smith C, Chen Y, Colonna V, Frankish A, Harrow J,
Xue Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Harmanci AO, Jin M, Khurana
E, Mu XJ, Sisu C, Gibbs RA, Kovar C, Kalra D, Hale W, Fowler G, Muzny D, Reid J, Wang J, Guo X, Li G, Li
Y, Zheng X, Altshuler DM, Flicek P, Clarke L, Barker J, Kelman G, Kulesha E, Leinonen R, McLaren WM,
6
Radhakrishnan R, Roa A, Smirnov D, Smith RE, Streeter I, Toneva I, Vaughan B, Zheng-Bradley X, Bentley
DR, Cox T, Humphray S, Kahn S, Sudbrak R, Albrecht MW, Lienhard M, Craig DW, Izatt T, Kurdoglu AA,
Sherry ST, Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Church D, Cohen R, Cook C, Garner J,
Hefferon T, Kimelman M, Liu C, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S,
Schneider V, Shekhtman E, Sirotkin K, Slotta D, Xiao C, Zhang H, Haussler D, Abecasis GR, McVean GA,
Alkan C, Ko A, Dooling D, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Chakravarti
A, Knoppers BM, Abecasis GR, Barnes KC, Beiswanger C, Burchard E, Bustamante CD, Cai H, Cao H,
Durbin RM, Gharani N, Gibbs RA, Gignoux CR, Gravel S, Henn B, Jones D, Jorde L, Kaye JS, Keinan A,
Kent A, Kerasidou A, Li Y, Mathias R, McVean G, Moreno-Estrada A, Ossorio PN, Parker M, Reich D,
Rotimi CN, Royal CD, Sandoval K, Su Y, Sudbrak R, Tian Z, Timmermann B, Tishkoff S, Toji LH, TylerSmith C, Via M, Wang Y, Yang H, Yang L, Zhu J, Bodmer W, Bedoya G, Ruiz-Linares A, Ming CZ, Yang G,
You CJ, Peltonen L, Garcia-Montero A, Orfao A, Dutil J, Martinez-Cruzado JC, Oleksyk TK, Brooks LD,
Felsenfeld AL, McEwen JE, Clemm NC, Duncanson A, Dunn M, Green ED, Guyer MS, Peterson JL.
Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct
4;342(6154):1235587. doi: 10.1126/science.1235587.
50. T Pippucci, A Parmeggiani, F Palombo, A Maresca, L Crisponi, A Angius, F Cucca, R Liguori, ML
Valentino, M Seri, V Carelli. A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in
epileptic encephalopathy. PLoS ONE 8(12): e82154. doi:10.1371/journal.pone.0082154
51. R Piras, F Chiappe, I La Torraca, I Buers, G Usala, A Angius, MA Akin, F Benedicenti, O El Assy, M
Feingold, B Kamien, E Kılıç, S Kurtoglu, P Lapunzina, A Manzur, N Uzunalic, G Valencia, A Zankl, F Cucca,
G Zampino, G Crisponi, L Crisponi, F Rutsch. Expanding the mutational spectrum of CRLF1 in
Crisponi/CISS1 Syndrome. In press on Human Mutation. Hum Mutat. 2014 Apr;35(4):424-33. doi:
10.1002/humu.22522. Epub 2014 Mar 6.
52. M Sikora, ML Carpenter, A Moreno-Estrada, BM Henn, PA Underhill, F Sánchez-Quinto, I Zara, M
Pitzalis, C Sidore, F Busonero, A Maschio, A Angius, C Jones, J Mendoza-Revilla, TT Harkinsh, A Kelleri, F
Maixner, A Zink, G Abecasis, S Sanna, F Cucca, CD. Bustamante. Genomic data from modern Sardinians
and ancient Bulgarians provides new insights into the Sardinian ancestry of the Tyrolean Iceman. In press
On PLoS Genet.
Riviste Nazionali
1. M Pirastu, A Figus, F Lilliu, A Angius, V Dessì, L Argiolas, I Contini, AM Nurchi, A Deplano, S De
Virgiliis. La malattia di Wilson. Prospettive in pediatria 1995; 97: 61-74.
2. N Zedda, E Onnis, A Angius, F Balata, PA Cherchi, G Sole, N Olla, D Poddie, A Cao, A Cherchi, M
Pirastu. Esiste una predisposizione genetica per l'espansione infartuale? Valutazione dei polimorfismi
genetici del sistema renina-angiotensina. Cardiologia 1997; 42 (3): 281-285.
3. Boggio-Merlo S, Pescetti L, De Gioia E, Angius A, Brogliatti B, Grignolo FM. La genetica nel glaucoma
primario ad angolo aperto: studio preliminare. Bollettino di Oculistica 1998, 77: 49-52
4. Morelli L., Melis P., Angius A., Casu G., Cabras S., Pirastu M. Approccio molecolare e genealogico per
la caratterizzazione di linee di discendenza materne e paterne in isolati genetici: applicazione alla genetica
delle malattie multifattoriali. Rivista di Antropologia, 78: 219-228, 2000.
5. A Angius. Genetica del Glaucoma Primario ad Angolo Aperto: variabilità fenotipica nelle mutazioni più
comuni del gene Miocillina. Minerva Oftalmol. 2002; 44 (2): 61-69.
Editorial activity
1. A Angius, TS. Bianchi-Marzoli, B. Brogliatti, P. Brusini, R. Carassa, A. Carta, M. Centofanti, R. De
Natale, L. Fontana, F. Galassi, S. Gandolfi (ed.), M. Lester, G. Manni, G. Marchini, E. Martini, L.
Mastropasqua, S. Miglior, P. Nucci, V. Parisi, A. Perdicchi, M. Pirastu, L. Quaranta, M. Rolando, L. Rossetti,
C. Traverso, M. Uva, M. Vetrugno. Il Glaucoma. Casa editrice Mattioli 1885. Anno: 2005. ISBN: 88-8939711-X.
2. R Muzzarelli, N Dahiya, A Giansanti, F Mecozzi, S Musumeci (ed.), H Michelakakis, I Labadaridis, R
Boot, D Speijer, AP Bussink, JMFG Aerts, A Angius, A Cenarro, F Civeira, J Brunner, S Sotgiu, LF Gonzalez
Cuyar, RJ Castellani, XQ Pan, J Johansen, R Barone, M Musumeci, MA Seibold, EG Burchard, J
Kzhyshkowska, MG Paoletti (ed.), N Lorenzo, E Cozzarini, E Mizoguchi, M Kawada, S Sakuda, F Falcone.
Binomium Chitin-Chitinase: Recent Issues. Casa Editrice Nova Science Publishers. Pub. Date: 2009, 1st
quarter. ISBN: 978-1-60692-339-9
Comunicazioni a congresso
1. G.Loudianos, P.Cossu, A.L.Figus, A.Loi, V.Dessì, M.Mannella, A.L.Nucaro, B.Fanni, M.Deiana, S.Vaccargiu, R.Casu,
A.Angius, A.Balestrieri,A.Cao, M.Pirastu. Malattia di Wilson: avvicinamento al gene del Wilson tramite "positional
cloning". Analisi del DNA. Firenze, Febbraio 26, 1993.
2. M.Pirastu, P.Cossu, A.Loi, A.L.Nucaro, M.Deiana, G.Loudianos, A.Angius, V.Dessì, S.DeVirgiliis, A.Cao, A.L.Figus,
G.Farci, A.Balestrieri, A.M.Nurchi, A.Deplano, M.Devoto, L.M.Brustowicz, K.E.Petrukhin, I.P.Chernov, T.C.Gilliam. A
founder effect for Wilson's Disease in Sardinia defined by linkage disequilibrium mapping. Am J Hum Genet – Progr abs
844; 1993 Annual Meeting.
3. Figus, A. Angius, G. Loudianos, C. Bertini, V. Dessì, A. Loi, M. Deiana, M. Lovicu, N. Olla, G. Sole, A. Deplano, A. M.
Nurchi, S. De Virgiliis, A. Balestrieri, A. Cao, M. Pirastu. Patologia molecolare e analisi degli aplotipi nella malattia di
Wilson nelle popolazioni Mediterranee. Biochimica Clinica, 1995, vol.19, n.3
4. N Zedda, A Angius, F Balata, E Onnis, G Sole, N Olla, D Poddie, A Cherchi A Cao, M Pirastu. Polimorfismi genetici
7
del sistema Renina Angiotensina ed espansione infartuale. 570 Congresso Nazionale della Società Italiana di Cardiologia
- Roma, 10-13 Dicembre 1996.
5. E Onnis, A Angius, R Pirisi, G Lai, M Cadeddu, O Mura, G Sole, N Olla, D Poddie, A Cao, A Cherchi, M Pirastu. Le
varianti genetiche del sistema Renina Angiotensina non predicono la gravità della coronaropatia nei pazienti con infarto
miocardico acuto. 570 Congresso Nazionale della Società Italiana di Cardiologia – Roma, 10-13 Dicembre 1996.
6. R Congiu, A Angius, V Demontis, G Sole, N Olla, D Poddie, O Chelo, A Cao, A Cherchi, F Sau, M Pirastu. Mancanza
di associazione di alcune varianti genetiche del sistema Renina-Angiotensina con l'ipertensione arteriosa essenziale nella
popolazione del Sud Sardegna. 570 Congresso Nazionale della Società Italiana di Cardiologia - Roma, 10-13 Dicembre
1996.
7. G Loudianos, V Dessì, A Angius, M Lovicu, C Bertini, A Loi, G Sole, N Olla, AL Figus, A Cao, M.Pirastu. Molecular
pathology of Wilson disease in Mediterranean populations. Am J Hum Genet - Progr abs 1560; 1996 Annual Meeting.
8. M Pirastu, P Melis, A Angius. Genetica di popolazioni isolate: applicazione allo studio di disordini cardiovascolari.
Analisi del DNA 1997 - Firenze, 28 Febbraio 1997.
9. M Pirastu, A Loi, E De Gioia, P Spinelli, A Angius, F Nizzola, G Alberti, S Gandolfi, G Ghillotti, M Fossarello. Clinical
and genetic heterogeneity of autosomal dominant Open Angle Glaucoma (OAG) in Italy. Association in Vision
Ophthalmology - Miami May 13-17, 1997.
10. G Loudianos, V Dessì, M Lovicu, A Angius, M Kanavakis, M Tzetis, A Manolaki, T Karpatios, C Kattamis, A Cao, M
Pirastu. Molecular pathology of Wilson disease in greek population. European Society of Human Genetics - Genova, May
17-20, 1997.
11. M Pirastu, A Loi, E De Gioia, P Spinelli, A Angius, G Sole , M Pisano, F Nizzola, G Alberti, S Gandolfi, G Ghillotti, M
Fossarello. Clinical and genetic heterogeneity of autosomal dominant Open Angle Glaucoma (OAG) in Italy. 30°
European Society of Human Genetics - Genova, May 17-20, 1997.
12. L Morelli, P Melis, A Angius, G Casu, R Robledo, S Cabras, M Pirastu. Searching for founders of multifactorial
disorders in Sardinia. Human Evolution - Cold Spring Harbor, October 4-8, 1997.
13. C Nobile, A Manca, M Pisano, A Angius, R Muresu, IC Gray, NK Spurr. Localizzazione di sequenze trascritte
(ESTs) lungo una mappa fisica dettagliata della regione 10q24. XII Congresso Nazionale FISME - Spoleto 12-14
novembre 1997.
14. M Pirastu, A Angius, M Pisano, A Manca, G Casu, I Persico, S Pitzalis, De Gioia, F Grignolo, A Loi, G Sole, A Cao,
P Spinelli, G Ghillotti , L Bonomi, M Fossarello, A Serra, S Gandolfi, G Alberti, G Maraini, A Serru, N Orzalesi. Basi
molecolari del Basi molecolari del Glaucoma ad angolo aperto. XIII° Riunione Nazionale AISG – Rapallo 13 – 14 Marzo
1998.
15. M Pirastu, A Angius, M Pisano, De Gioia, A Loi, M Fossarello, G Sole, P Spinelli, G Alberti, L Bonomi, F Grignolo, G
Maraini, A Cao, A Serra, A Serru, N Orzalesi, S Gandolfi. Molecular genetics of ad POAG in Italy. 2nd International
Glaucoma Symposium - I.G.S. Jerusalem, March 15-20 1998.
16. C Nobile, A Manca, M Pisano, A Angius, R Muresu, IC Gray, NK Spurr. A refined physical and ESTs map spanning
7.4 Mb of chromosome band 10q24. Human Genome Meeting - HUGO - Turin 28-30 March 1998.
17. G Loudianos, V Dessì, M Lovicu, A Angius, A Cao, M Pirastu. Molecular pathology of Wilson disease in
mediterranean populations. - Vth Conference ISTERH - Lion 26-30 September, vol. 11, N.4, 1998.
18. M Pisano, A Cossu, I Persico, G Palmieri, A Angius, G Casu, G Palomba, M G Sarobba, A Farris, G Massarelli, F
Tanda, M Pirastu. A founder mutation in Sardinian breast cancer families detected by identity-by-descent method. 31°
European Society of Human Genetics - Geneva, May 29- June 1, 1999.
19. G Loudianos, V Dessi, M Lovicu, A Angius, A Figus, F Lilliu, S De Virgiliis, V Deidda, P Moi, M Pirastu, A Cao.
Studio molecolare della malattia di Wilson in popolazioni di origine Mediterranea. II Congresso Nazionale SIGU - Orvieto,
29 Settembre -1 Ottobre, 1999
20. L Morelli, P Melis, A Angius, G Casu, S Cabras, M Pirastu. Analisi delle popolazioni isolate per l’identificazione di
fattori genetici delle malattie multifattoriali. XIII congresso degli Antropologi Italiani - Roma 4-8 ottobre 1999.
21. PM Melis, L Morelli, A Angius, G Casu, N Ombra, S Casula, GB Maestrale, D Piras, S Cabras, M Pirastu.
Demographic, genealogical and genetic characterization of an isolated Sardinian micropopulation suitable for the study of
complex traits. Am J Hum Genet - Progr abs 448 1999 Annual Meeting.
22. G Loudianos, V Dessi, M Lovicu, A Angius, A Figus, F Lilliu, S De Virgiliis, V Deidda, P Moi, M Pirastu, A Cao.
Isolation of the promoter region of the WD gene and characterization of the most frequent mutation in sardinian
population. Am J Hum Genet - Progr abs 2707; 1999 Annual Meeting.
23. A Angius, P Forabosco, G Maestrale, G Casu, D Piras, A Pala, M Palermo, P Melis, M Pirastu. Genome-wide
screen for essential hypertension genes in a deep rooted sardinian pedigree. European Mathematical Genetics Meeting Diepenbeek, (Belgium) April 13-15, 2000. Annals of Human Genetics, Volume 64, Issue 05. September 2000. pp455-477
24. E Vitale, C Specchia, G Serra, L Demelas, M Devoto, A Angius, R Sun, M Schwalb, MD Paglietti, S Manca, C
Mastropaolo. Identification of a novel locus responsible for a unique form of inherited mental retardation. European
Human Genetics Conference - Amsterdam, May 27-30, 2000.
25. A Angius, P Forabosco, G Maestrale, G Casu, PM Melis, D Piras, A Pala, M Palermo, M Pirastu. Genome-wide
screen for essential hypertension genes in a deep rooted Sardinian pedigree. European Human Genetics Conference Amsterdam, May 27-30, 2000.
26. N. Ombra, S. Casula, P. Forabosco, A. Angius, M. P. Pinna, E. Petretto, G. Colussi, E. Usai, R. Scarpa, P. Melis, M.
Pirastu. First evidence of candidate loci for uric acid nephrolithiasis using an ideal genetic isolate. Am J Hum Genet Progr abs 189; 2000 Annual Meeting.
27. E. Vitale, C. Specchia, M. Devoto, A. Angius, S. Rong, K. Subramanian, M. Rocchi, M. Schwalb, L. Demelas, D.
Paglietti, S. Manca, C. Mastropaolo, G. Serra. A novel X-Linked mental retardation syndrome with short stature maps to
Xq24. Am J Hum Genet - Progr abs 1847; 2000 Annual Meeting.
28. G. Maninchedda, P. Spinelli, M. Fossarello, M. Fattorini, A. Serra, L. Bonomi, M. Pirastu, A. Angius. Molecular
characterization of human cytochrome P4501B1(CYP1B1) gene in Italian PCG patients. Am J Hum Genet - Progr abs
2131; 2000 Annual Meeting.
29. A Angius, GB Maestrale, P Forabosco, E Petretto, G Casu, D Piras, M Fanciulli, PM Melis, M Palermo, M Pirastu.
Genome-wide screen for essential hypertension genes in a deep-rooted from an isolated sardinian subpopulation. Am J
Hum Genet - Progr abs 194; 2001 Annual Meeting.
30. M.Pirastu, E.Petretto, G.B.Maestrale, P.Forabosco, G.Casu, D.Piras, M.Fanciulli, M.Palermo, P.M. Melis, A.Angius.
Sardinian isolated population for the study of complex traits: genome –wide search for essential hypertension in a deep
rooted pedigree. Telethon Scientific Convention - Abs. 224; Riva del Garda, 18-20 November 2001.
8
31. E Petretto, D Bebbere, M Falchi, P Forabosco, GB Maestrale, G Casu, I Persico, PM Melis, A Angius, M Pirastu.
Extent and distribution of linkage disequilibrium on Xq13.3 in nested Sardinian subpopulations. Third International
Meeting on the Genetic Epidemiology of Complex Traits – Cambridge, 4-6 April 2002 Annual Meeting.
32. A Angius, DA Prodi, A Sassu, I Persico, J Simpore, S Musumeci. Macrophage, chitotriosidase and malaria. Italian
Section Society of Protozoologists 23rd Annual Meeting, October 4-5, 2002, Porto Conte, Sassari, Italy.
33. DA Prodi, A Angius, A Sassu, I Persico, J Simpore, S Musumeci. Can malaria infection have a leadership on clinical
expression of Leishmaniasis?. Italian Section Society of Protozoologists 23rd Annual Meeting, October 4-5, 2002, Porto
Conte, Sassari, Italy.
34. A. Angius, E Petretto, I Persico, M Fanciulli, D Bebbere, A Pernisa, R Baldinu, GB Maestrale, PM Melis, M Pirastu.
Dissecting the genetic contribution of a QTL within the DCP1 gene on ACE level. Am J Hum Genet - Progr abs 1154;
2002 Annual Meeting.
35. M Pirastu, PM Melis, A Angius, P Forabosco, M Falchi, E Petretto, C Cappio Borlino, P Unali, G Mancosu, P Ledda,
C Hayward, A Wright. High resolution genetic maps and complete genealogy of an isolated Sardinian sub-population as
prerequisite for the study of complex traits. Am J Hum Genet - Progr abs 68; 2002 Annual Meeting.
36. M Falchi, P Forabosco, E Petretto, A Angius, C Cappio Borlino, I Persico, GB Maestrale, M Fanciulli, DA Bebbere,
D Prodi, C Fraumene, MA Palmas, P Melis, M Pirastu. Feasibility of complex pedigrees in isolated population for QTL
mapping. Am J Hum Genet - Progr abs 1653; 2002 Annual Meeting.
37. DA Prodi, D Drayna, A Angius, P Forabosco, D Piras, MA Palmas, M Pirastu. Genetic of bitter taste: identification of
a Ch 7q35 locus in a Sardinian genetic isolate. Am J Hum Genet - Progr abs 1721; 2002 Annual Meeting.
38. M Pirastu, E Petretto, I Persico, M Fanciulli, D Bebbere, A Pernisa, R Baldinu, GB Maestrale, PM Melis, A Angius.
Studio delle malattie complesse in una popolazione isolata della Sardegna: analisi di aplotipi e livelli circolanti dell’Enzima
Convertitore dell’Angiotensina I. Telethon Scientific Convention - Abs. 206; Riva del Garda, 24-26 November 2002.
39. A Angius, R Baldinu, D Bebbere, G Casu, S Casula, A De Montis, T Esposito, M Fanciulli, C Fraumene, M Fattorini,
F Gianfrancesco, C Loddo, GB Maestrale, G Maninchedda, L Martinelli, PM Melis, E Mocci, N Ombra, D Parracciani, A
Pernisa, I Persico, E Petretto, A Picciau, D Piras, DA Prodi, A Sassu, S Tore, S Vaccargiu, M Pirastu. Ogliastra Project:
Population, Methodology and Results. Genetics of complex diseases and isolated populations - Abs. 42; Tortolì, 23-30
May 2003.
40. A Angius, E Petretto, I Persico, M Fanciulli, D Bebbere, A Pernisa, R Baldinu, GB Maestrale, M Pirastu. Varianti del
gene DCP1 influenzano in maniera diversa i livelli sierologici di Angiotensin Convertine Enzyme (ACE). XX Congresso
Nazionale SIIA - Abs. 144; Roma, 14- 17 ottobre 2003.
41. A Angius, M Fanciulli, M Adamo, E Petretto, R Piras, GB Maestrale, D Piras, A Picciau, I Persico, M Pirastu.
Identification of candidate loci for essential hypertension by genome-wide search in a genetic isolate from Sardinia.
Selected abstract from XX Congresso Nazionale SIIA - Abs. 3.6; Rome, 14-17 October 2003. High Blood Press
Cardiovasc Prev 2003; 10 (2): 117.
42. A Angius. The use of population isolates to map complex traits. New Frontiers: Italian/Canadian Genomic
Population Genetics and Bioinformatic Collaborations, 2nd Meeting October 24-28, 2003.
43. A Angius, E Petretto, M Adamo, R Piras, G Biino, M Fanciulli, M Pirastu. Genome Wide Scan for blood pressure in
an isolated Sardinian founder population. Am J Hum Genet - Progr abs 1770; 2003 Annual Meeting.
44. E Petretto, C Fraumene, A Demontis, A Angius, M Pirastu. Striking differentiation of sub-populations within a
genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Am J Hum Genet - Progr abs
125; 2003 Annual Meeting.
45. M Pirastu, E Petretto, M Adamo, R Piras, G Biino, M Fanciulli, A Angius. Analisi di QTL associati alla pressione
arteriosa in un isolato genetico (Talana). Telethon Scientific Convention - Abs. 181; Riva del Garda, 24-25 November
2003.
46. G Biino, M Adamo, R Piras, D Serra, R Palmas, GM Mancosu, M Fanciulli, A Angius, M Pirastu. Studio della
prevalenza e dei fattori di rischio dell’ipertensione in due isolati genetici della Sardegna. XXI Congresso Nazionale SIIAAbs. 102; Firenze, 5-8 ottobre 2004.
47. MA Palmas, M Adamo, A Sassu, G Biino, R Piras, G Mancosu, P Ledda, L Atzori, A Angius, M Pirastu. Genome
wide screen in Sardinian genetic isolates identifies two genomic regions linked to androgenetic alopecia. 13th EADV
Congress; Florence, Italy, 17 - 21 November 2004.
48. FM De La Vega, F Hyland, A Angius, I Persico, T Woodage, M Pirastu. Patterns of linkage disequilibrium between
SNPs on a Sardinian population isolate and the selection of markers for fine-mapping association studies. Genetics of
Complex Diseases and Isolated Populations, Paestum, Italy, 28-31 May 2005
49. G Biino, G, R Lener, M Whalen, M Adamo, D Serra, S Casula, GB Maestrale, A Angius, M Pirastu. Epidemiology
and Genetics of Obesity in three Sardinian Genetic Isolates. Genetics of Complex Diseases and Isolated Populations,
Paestum, Italy, 28-31 May 2005
50. C Fraumene, S Sanna, G Barbujani, L Castri, E Belle, M Cosso, F Marras, G Mancosu, A Angius, M Pirastu.
Complete sequence of all mtDNA lineages in three isolated villages of Ogliastra: phylogenetic networks and comparison
with other European populations. Genetics of Complex Diseases and Isolated Populations, Paestum, Italy, 28-31 May
2005
51. G Mancosu, M Cosso, F Marras, C Cappio Borlino, G Ledda, T Manias, G Biino, A Casciello, A Altieri, I Persico, M
Adamo, D Serra, A Angius, M Pirastu. Analysis of a isolated population multidisciplinary database through interactive
informatics tools. Genetics of Complex Diseases and Isolated Populations, Paestum, Italy, 28-31 May 2005
52. M Musumeci, J Simpore, R Barone, A Angius, S Musumeci. Plasma Chitotriosidase activity and severity of
Plasmodium falciparum malaria. 5° Congresso Nazionale SIMET-SIMVIM, Abs 337, Brescia, 29 sett-1 ott 2005.
53. FM De La Vega, F Hyland, A Angius, I Persico, T Woodage, M Pirastu. Patterns of Linkage Disequilibrium between
SNPs on a Sardinian Population Isolate and the Selection of Markers for Association Studies. Am J Hum Genet - Progr
abs 1018; 2005 Annual Meeting.
54. A Angius, M Fanciulli, M Fattorini, V Cabras, M Adamo, D Serra, D Degli Esposti, G Biino, M Pirastu.
Epidemiological and genetic survey of hypertension in a Sardinian isolated population. Am J Hum Genet - Progr abs
1899; 2005 Annual Meeting.
55. M Musumeci, J Simpore, R Barone, A Angius, S Musumeci. Synchronic macrophage response and Plasmodium
falciparum malaria. International Conference on Malaria (Commemorating 125 years of Malaria Research) Theme:
Laveran to Genomics, 4-6 November 2005, New Delhi, India.
9
56. S Sotgiu, A Angius, ML Fois,G Arru, M Pugliatti, G Rosati, S Musumeci. Multiple sclerosis, the innate immunity and
th
the hygiene hypothesis. 9 Meeting of the Society for Natural Immunity November 4-8, 2005 Poipu Beach, Kauai, Hawaii,
USA.
57. S Sotgiu, A Angius, ML Fois,G Arru, M Pugliatti, G Rosati, S Musumeci. Multiple sclerosis, the innate immunity and
th
the hygiene hypothesis. 9 Meeting of the Society for Natural Immunity November 4-8, 2005 Poipu Beach, Kauai, Hawaii,
USA.
58. N Pirastu, E Mocci, G Mancosu, L Casula, M Cosso, F Marras, M Pirastu, A Angius. Landmark study of LD in a
genetic Sardinian isolate using 500k SNP: prerequisite for GW association approach. Am J Hum Genet - 2006 New
Orleans, LA October 9-13.
59. Fois ML, Angius A, Arru G, Sanna A, Stradoni R, Rosati G, Musumeci S, Sotgiu S. Clinical expression of multiple
sclerosis and the polymorphisms of the Chitotriosidase. 23rd Congress of the European-Committee-for-Treatment-andResearch-in-Multiple-Sclerosis/12th Annual Conference of Rehabilitation in MS, , 2007, Prague, October 11-14.
60. DA Prodi, N Pirastu, G Maninchedda, A Mossa, A Sassu, A Picciau, MA Palmas, G Biino, L Casula, M Adamo, A
Angius, M Pirastu. A new Androgenetic Alopecia genetic predisposing factor. Am J Hum Genet -; 2007 San Diego,
October 23-27.
61. E Mocci, V Cabras, N Pirastu, MP Concas, C Fraumene, M Adamo, I Persico, G Biino, M Pirastu, A Angius.
Essential Hypertension is associated to several worldwide genetic factors in a Sardinian genetic isolate. Am J Hum
Genet - 2007 San Diego, October 23-27.
62. G Pistis, C Fraumene, N Pirastu, E Mocci, MT Manias, V Cabras, R Stradoni, M Cosso, D Farris, F Marras, R Atzeni,
A Angius, M Pirastu. Genetic studies on an isolate region of Sardinia unravels history and evolution of its population. Am
J Hum Genet - 2007 San Diego, October 23-27.
63. S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore, R Murru, MB Whalen, F Busonero, A Maschio, G Costa, M
Pugliatti, S Traccis, A Angius, M Melis, G Rosati, G R Abecasis, M Uda, M G Marrosu, D Schlessinger, F Cucca A
genome-wide association scan in Sardinians reveals a novel gene associated with multiple sclerosis. ESHG 2010,
Gothenburg, Sweden, June 12 – 15.
64. S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore, R Murru, MB Whalen, L Scirru, MA Secci, F Deidda, L
Corrado, N Barizzone, F Poddie, L Morelli, G Farina, M Dei, S Lai, A Mulas, Y Li, M Pugliatti, S Traccis, A Angius, S
D'alfonso, M Melis, G Rosati, GR Abecasis, M Uda, MG Marrosu, D Schlessinger, F Cucca. Variants within the CBLB
gene are associated with multiple sclerosis. Am J Hum Genet - 2010 Washington, DC November 2-6.
65. J. Bragg-Gresham, S. Sanna, S. Kardia, G. Abecasis, M. Uda, C. Sidore, F. Cucca, A. Cao, A. Mulas, F. Busonero,
F. Reinier, R. Berutti, A. Maschio, M. Urru, M. Marcelli, R. Cusano, M. Oppo, M. Pitzalis, M. Zoledziewska, A. Angius, et
al. Genetic Associations with the Variation in Aging from the SardiNIA/Progenia Project. ICHG/ASHG 2011, Montréal,
Canada, October 11-15.
66. M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Jones, D. Schlessinger,
G. Abecasis, A. Angius, S. Sanna, F. Cucca. Large-scale transcriptome study in the Sardinian founder population.
ICHG/ASHG 2011, Montréal, Canada, October 11-15.
67. S. Rashkin, T. Blackwell, C. Sidore, S. Sanna, F. Busonero, W. Chen, H. M. Kang, C. Fuchsberger, F. Reinier, R.
Berutti, F. Deidda, M. F. Urru, M. Marcelli, R. Cusano, M. Oppo, A. Maschio, M. Pitzalis, M. Zoledziewska, A. Angius, R.
Nagaraja, M Uda, D Schlessinger, C Jones, F Cucca, G Abecasis. Likelihood Based Deletion Analysis in a Sample of
Sequenced Sardinian Individuals. ICHG/ASHG 2011, Montréal, Canada, October 11-15.
68. C. Sidore, S. Sanna, F. Busonero, W. Chen, H. M. Kang, C. Fuchsberger, F. Reinier, R. Berutti, D. Hovelson, M. F.
Urru, M. Marcelli, R. Cusano, M. Oppo, A. Maschio, M. Pitzalis, M. Zoledziewska, A. Angius, R. Nagaraja, M. Uda, D.
Schlessinger, et al. Whole Genome Sequencing of 1000 Individuals in an Isolated Population. ICHG/ASHG 2011,
Montréal, Canada, October 11-15.
69. V Orrú, E Fiorillo, M Steri, G Sole, F Virdis, M Dei, S Lai, A Mulas, M Piras, M Lobina, M Marongiu, M Congia, D
Firinu, MB Whalen, C Sidore, MF Urru, F Busonero, F Reinier, M Marcelli, R Atzeni, A Angius, CMS Jones, D
Schlessinger, GR Abecasis, S Sanna, F Cucca. Genetic factors regulating the levels of immune system cells in health and
diseases . European Network of Immunology Institutes (ENII) 2012, Alghero, Italy, April 15-22.
70. S Sanna, M Steri, G Sole, C Sidore, MF Urru, F Busonero, F Reinier, M Dei, S Lai, F Virdis, A Mulas, M Marcelli, R
Atzeni, A Angius, C M Jones, D Schlessinger, G R Abecasis, V Orrú, E Fiorillo, F Cucca Systematic assessment of the
immune system by genetic mapping of its quantitative dimensions. ESHG 2012, Nürnberg, Germany, June 23 – 26.
71. F Danjou, L Usala, L Perseu, C Sidore, F Busonero, R Berutti, F Reinier, A Angius, A Maschio, C Jones, F Anni, S
Satta, F Demartis, N Ramaiah, G Abecasis, D Schlessinger, R Galanello, F Cucca, S Sanna, M Uda. Application of next
generation sequencing to identify causative variant at the BCLA locus. ESHG 2012, Nürnberg, Germany, June 23 – 26.
72. R Berutti, F Reinier, R Atzeni, A Angius, R Cusano, M Marcelli, M Oppo, R Pilu, M F Urru, M Valentini, I Zara, S
Sanna, F Cucca, C Jones. QCTool: an efficient toolkit to automatically generate quality metrics of next-generation
sequencing data. ESHG 2012, Nürnberg, Germany, June 23 – 26.
73. I Zara, M Oppo, F Chiappe, F Reinier, R Berutti, R Atzeni, C Jones, V Dessì, C Perria, V Pes, G Serra, M Valentini,
A Angius, S Sanna, F Cucca, L Crisponi. Unravelling the genetic causes of syndromic Intellectual Disability in the era of
exome sequencing. ESHG 2012, Nürnberg, Germany, June 23 – 26.
74. A Squassina, D Congiu, M Manchia, A Angius, V Deiana, R Ardau, C Chillotti, G Severino, S Calza, M Del Zompo,
M Costa. A genome wide gene expression study suggests new candidate genes for lithium response in bipolar patients of
Sardinian ancestry. XX World Congress of Psychiatric Genetics 2012, Hamburg, Germany, October 14 – 18.
75. G. Pistis, C. Sidore, A. Mulas, M. Zoledziewska, R. Berutti, F. Reinier, MF. Urru, A. Maschio, M. Marcelli, A. Angius,
C. Jones, G. Abecasis, S. Sanna, F. Cucca. Imputation quality thresholds for rare and common variants.(1451W) ASHG
2012, San Francisco, USA, November 06-10.
76. F. Anedda, S. Sanna, I. Asunis, G. Usala, F. Danjou, L. Perseu, A. Cabriolu, C. A. Caria, L. Porcu, M. G. Marini, M.
F. Marongiu, C. Sidore, R. Berutti, M. Pala, A. Angius, F. Busonero, A. Maschio, S. Satta, F. Demartis, L. Maccioni, A.
Meloni, R. Nagaraja, G. Abecasis, D. Schlessinger, M. S. Ristaldi, R. Galanello, P. Moi, F. Cucca, S. Sanna, M. Uda. Post
GWAS analysis of the BCL11A intronic region to define its role in regulating HbF levels.(2001W) ASHG 2012, San
Francisco, USA, November 06-10.
77. I. Zara, E. Porcu, M. Zoledziewska, M. Pitzalis, M. Valentini, A. Mulas, F. Busonero, R. Atzeni, M. Oppo, F. Reinier,
R. Berutti, R. Pilu, F. Deidda, C. Sidore, R. Piras, A. Loi, Sonia. Sanna, E. Cocco, F. Poddie, G. Farina, G. Rosati, L.
Lianas, G. Cuccuru, G. Zanetti, A. Angius, M. G. Marrosu, C. M. Jones, G. R. Abecasis, Serena. Sanna, F. Cucca.
Sequencing-based and multiplatform Genome-Wide Association Study for Multiple Sclerosis and Type 1 Diabetes in
Sardinians.(157)(Platform) ASHG 2012, San Francisco, USA, November 06-10.
10
78. J. Bragg-Gresham, S. Sanna, C. Sidore, A. Mulas, F. Busonero, A. Maschio, M. Urru, F. Reinier, R. Berutti, M.
Marcelli, R. Cusano, M. Oppo, D. Pitzalis, M. Zoledziewska, A. Angius, C. Jones, A. Cao, M. Uda, S. Kardia, D.
Schlessinger, F. Cucca, G. Abecasis. Heritability of the Variation in Aging in Two Longitudinal Family Cohort Studies:
SardiNIA/Progenia Study and Framingham Heart Study.(113)(Platform) ASHG 2012, San Francisco, USA, November 0610.
79. C. Sidore, S. Sanna, A. Kwong, H. M. Kang, R. Cusano, M. Pitzalis, M. Zoledziewska, A. Maschio, F. Busonero, M.
Lobina, A. Angius, R. Lyons, B. Terrier, C. Brennan, R. Atzeni, A. Mulas, M. Dei, M. Piras, S. Lai, F. Reinier, R. Berutti,
C. Jones, M. Marcelli, M. Urru, M. Oppo, D. Schlessinger, G. Abecasis, F. Cucca. Whole Genome Sequencing of 2100
Individuals in the founder Sardinian Population.(177)(Platform) ASHG 2012, San Francisco, USA, November 06-10.
80. M. Sikora, M. Carpenter, A. Moreno-Estrada, B. M. Henn, P. A. Underhill, I. Zara, M. Pitzalis, C. Sidore, F. Reinier,
M. Marcelli, A. Angius, C. Jones, T. T. Harkins, A. Keller, A. Zink, G. Abecasis, S. Sanna, F. Cucca, C. D. Bustamante.
On the Sardinian ancestry of the Tyrolean Iceman.(186)(Platform) ASHG 2012, San Francisco, USA, November 06-10.
81. M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Joens, D. Schlessinger,
G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. B. Montgomery. The genetics of gene expression, splicing and
transcriptional efficiency through Poly-A selection and ribosomal depletion RNA sequencing in humans.(547F) ASHG
2012, San Francisco, USA, November 06-10.
82. M. Marongiu, A. Sbardellati, L. Marcia, A. Meloni, R. Cusano, A. Angius, G. Fotia, F. Cucca, L. Crisponi. Genomewide ChIP-seq analysis to identify mouse Foxl2 binding sites in vivo.(823F)M. Steri, V. Orrù, E. Fiorillo, G. Sole, C. Sidore,
F. Virdis, M. Dei, S. Lai, A. Mulas, M. G. Piras, M. Lobina, M. Marongiu, M. Zoledziewska, M. Congia, F. Busonero, A.
Maschio, M. F. Urru, M. Marcelli, R. Atzeni, D. Firinu, M. Valentini, W. Mentzen, S. Naitza, M. B. Whalen, A. Angius, C.
M. Jones, D. Schlessinger, G. Abecasis, S. Sanna, F. Cucca. Genetic factors associated with levels of immune cell
types.(1516F) ASHG 2012, San Francisco, USA, November 06-10.
83. T. Esposito, R. A. Lea, B. H. Maher, D. Moses, H. C. Cox, S. Magliocca, V. D’Alessio, A. Angius, T. Titus, T. Kay, A.
Parnham, F. Gianfrancesco, L. R. Griffiths. X-linked Familial Focal Segmental Glomerulosclerosis with First-Degree Heart
Block caused by a mutation in the NXF5 gene.(2916F) ASHG 2012, San Francisco, USA, November 06-10.
84. F. Anedda, S. Sanna, I. Asunis, G. Usala, D. Fabrice, C. A. Caria, L. Perseu, A. Loi, A. Cabriolu, L. Porcu, M. G.
Marini, M. F. Marongiu, C. Sidore, R. Berutti, M. Pala, A. Angius, F. Busonero, A. Maschio, S. Satta, F. Demartis, L.
Maccioni, R. Nagaraja, G. Abecasis, D. Schlessinger, M. S. Ristaldi, R. Galanello, P. Moi, F. Cucca, S. Sanna, M. Uda.
Post GWAS analysis of a BCLA intronic region to define its role in regulating HbF levels. ESHG 2013, Paris, France, June
08-11.
85. M. Steri, A. Mulas, M. Zoledziewska, C. Sidore, G. Pistis, F. Danjou, E. Porcu, M. Marongiu, F. Busonero, M. G.
Piras, M. Lobina, F. Reinier, R. Berutti, M. F. Urru, A. Angius, C. M. Jones, D. Schlessinger, G. R. Abecasis, S. Sanna, F.
Cucca. Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort. ESHG 2013, Paris,
France, June 08-11.
86. M. Pala, M. Marongiu, Z. Zappala, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M.G. Piras, C. Jones, D.
Schlessinger, G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. Montgomery. A large-scale transcriptome study in the
Sardinian population. ASHG 2013, Boston, USA, October 22-26.
87. E. Porcu, C. Sidore, M. Steri, A. Mulas, M. Zoledziewska, F. Busonero, A. Maschio, F. Danjou, G. Pistis, M.G. Piras,
M. Dei, S. Lai, H.M. Kang, C. Brennan, R. Berutti, M.F. Urru, M. Oppo, A. Angius, D. Schlessinger, F. Cucca, G.
Abecasis, S. Naitza, S. Sanna. Sequencing-based GWAS contributes to the refinement of association signals for
inflammatory markers in Sardinians. ASHG 2013, Boston, USA, October 22-26
88. G. Pistis, E. Porcu, C. Sidore, F. Danjou, M. Steri, A. Mulas, M. Zoledziewska, F. Busonero, F. Reinier, R. Atzeni, M.
Lobina, R. Pilu, M. Marcelli, B. Tarrier, H.M. Kang, A. Angius, C.M. Jones, D. Schlessinger, F. Cucca, G. Abecasis, S.
Sanna. Genotype imputation in the era of next-generation sequencing. ASHG 2013, Boston, USA, October 22-26.
89. Alessandro Concas A, Costelli C, Cusano R, Orsini M, Angius A, Cao G. Microalgae based technology for biofuels
production and CO2 capture: the role of mathematical modeling and genetic engineering. XXXI Giornata dell’ambiente –
Convegno Internazionale - The Terawatt Challenge: What research for our future energy? Accademia Nazionale dei
Lincei, Roma, 5-6 November 2013
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