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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. Among authors: cucca f. 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.
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.
Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F. Pitzalis M, et al. Among authors: cucca f. BMC Med Genet. 2008 Jan 20;9:3. doi: 10.1186/1471-2350-9-3. BMC Med Genet. 2008. PMID: 18205952 Free PMC article.
Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.
Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, Zavattari P, Murru R, Lampis R, Morelli L, Poddie F, Frongia P, Pusceddu P, Bajorek M, Marras A, Satta AM, Chessa A, Pugliatti M, Sotgiu S, Whalen MB, Rosati G, Cucca F, Marrosu MG. Zoledziewska M, et al. Among authors: cucca f. Genes Immun. 2009 Jan;10(1):15-7. doi: 10.1038/gene.2008.84. Epub 2008 Oct 23. Genes Immun. 2009. PMID: 18946483
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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. Sanna S, et al. Among authors: cucca f. Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9. Nat Genet. 2010. PMID: 20453840 Free PMC article.
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
Sanna S, Li B, Mulas A, Sidore C, Kang HM, Jackson AU, Piras MG, Usala G, Maninchedda G, Sassu A, Serra F, Palmas MA, Wood WH 3rd, Njølstad I, Laakso M, Hveem K, Tuomilehto J, Lakka TA, Rauramaa R, Boehnke M, Cucca F, Uda M, Schlessinger D, Nagaraja R, Abecasis GR. Sanna S, et al. Among authors: cucca f. PLoS Genet. 2011 Jul;7(7):e1002198. doi: 10.1371/journal.pgen.1002198. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829380 Free PMC article.
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM; Alcohol Genome-wide Association (AlcGen) … See abstract for full author list ➔ Chambers JC, et al. Among authors: cucca f. Nat Genet. 2011 Oct 16;43(11):1131-8. doi: 10.1038/ng.970. Nat Genet. 2011. PMID: 22001757 Free PMC article.
291 results