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Page 1
Genomic history of the Sardinian population.
Chiang CWK, Marcus JH, Sidore C, Biddanda A, Al-Asadi H, Zoledziewska M, Pitzalis M, Busonero F, Maschio A, Pistis G, Steri M, Angius A, Lohmueller KE, Abecasis GR, Schlessinger D, Cucca F, Novembre J. Chiang CWK, et al. Nat Genet. 2018 Oct;50(10):1426-1434. doi: 10.1038/s41588-018-0215-8. Epub 2018 Sep 17. Nat Genet. 2018. PMID: 30224645 Free PMC article.
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F. Steri M, et al. N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528. N Engl J Med. 2017. PMID: 28445677 Free PMC article.
Discovery of novel heart rate-associated loci using the Exome Chip.
van den Berg ME, Warren HR, Cabrera CP, Verweij N, Mifsud B, Haessler J, Bihlmeyer NA, Fu YP, Weiss S, Lin HJ, Grarup N, Li-Gao R, Pistis G, Shah N, Brody JA, Müller-Nurasyid M, Lin H, Mei H, Smith AV, Lyytikäinen LP, Hall LM, van Setten J, Trompet S, Prins BP, Isaacs A, Radmanesh F, Marten J, Entwistle A, Kors JA, Silva CT, Alonso A, Bis JC, de Boer R, de Haan HG, de Mutsert R, Dedoussis G, Dominiczak AF, Doney ASF, Ellinor PT, Eppinga RN, Felix SB, Guo X, Hagemeijer Y, Hansen T, Harris TB, Heckbert SR, Huang PL, Hwang SJ, Kähönen M, Kanters JK, Kolcic I, Launer LJ, Li M, Yao J, Linneberg A, Liu S, Macfarlane PW, Mangino M, Morris AD, Mulas A, Murray AD, Nelson CP, Orrú M, Padmanabhan S, Peters A, Porteous DJ, Poulter N, Psaty BM, Qi L, Raitakari OT, Rivadeneira F, Roselli C, Rudan I, Sattar N, Sever P, Sinner MF, Soliman EZ, Spector TD, Stanton AV, Stirrups KE, Taylor KD, Tobin MD, Uitterlinden A, Vaartjes I, Hoes AW, van der Meer P, Völker U, Waldenberger M, Xie Z, Zoledziewska M, Tinker A, Polasek O, Rosand J, Jamshidi Y, van Duijn CM, Zeggini E, Jukema JW, Asselbergs FW, Samani NJ, Lehtimäki T, Gudnason V, Wilson J, Lubitz SA, Kääb S, Sotoodehnia N, Caulfield MJ, Palmer CNA, … See abstract for full author list ➔ van den Berg ME, et al. Hum Mol Genet. 2017 Jun 15;26(12):2346-2363. doi: 10.1093/hmg/ddx113. Hum Mol Genet. 2017. PMID: 28379579 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Sidore C, Busonero F, Maschio A, Porcu E, Naitza S, Zoledziewska M, Mulas A, Pistis G, Steri M, Danjou F, Kwong A, Ortega Del Vecchyo VD, Chiang CWK, Bragg-Gresham J, Pitzalis M, Nagaraja R, Tarrier B, Brennan C, Uzzau S, Fuchsberger C, Atzeni R, Reinier F, Berutti R, Huang J, Timpson NJ, Toniolo D, Gasparini P, Malerba G, Dedoussis G, Zeggini E, Soranzo N, Jones C, Lyons R, Angius A, Kang HM, Novembre J, Sanna S, Schlessinger D, Cucca F, Abecasis GR. Sidore C, et al. Nat Genet. 2015 Nov;47(11):1272-1281. doi: 10.1038/ng.3368. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366554 Free PMC article.
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F. Danjou F, et al. Nat Genet. 2015 Nov;47(11):1264-71. doi: 10.1038/ng.3307. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366553 Free PMC article.
Height-reducing variants and selection for short stature in Sardinia.
Zoledziewska M, Sidore C, Chiang CWK, Sanna S, Mulas A, Steri M, Busonero F, Marcus JH, Marongiu M, Maschio A, Ortega Del Vecchyo D, Floris M, Meloni A, Delitala A, Concas MP, Murgia F, Biino G, Vaccargiu S, Nagaraja R, Lohmueller KE; UK10K consortium; Timpson NJ, Soranzo N, Tachmazidou I, Dedoussis G, Zeggini E; Understanding Society Scientific Group; Uzzau S, Jones C, Lyons R, Angius A, Abecasis GR, Novembre J, Schlessinger D, Cucca F. Zoledziewska M, et al. Nat Genet. 2015 Nov;47(11):1352-1356. doi: 10.1038/ng.3403. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366551 Free PMC article.
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.
Pistis G, Porcu E, Vrieze SI, Sidore C, Steri M, Danjou F, Busonero F, Mulas A, Zoledziewska M, Maschio A, Brennan C, Lai S, Miller MB, Marcelli M, Urru MF, Pitzalis M, Lyons RH, Kang HM, Jones CM, Angius A, Iacono WG, Schlessinger D, McGue M, Cucca F, Abecasis GR, Sanna S. Pistis G, et al. Eur J Hum Genet. 2015 Jul;23(7):975-83. doi: 10.1038/ejhg.2014.216. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293720 Free PMC article.
22 results