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Page 1
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: schlessinger d. 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.
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. Among authors: schlessinger d. 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.
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. Among authors: schlessinger d. 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.
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. Among authors: schlessinger d. 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.
A reference panel of 64,976 haplotypes for genotype imputation.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbi… See abstract for full author list ➔ McCarthy S, et al. Among authors: schlessinger d. Nat Genet. 2016 Oct;48(10):1279-83. doi: 10.1038/ng.3643. Epub 2016 Aug 22. Nat Genet. 2016. PMID: 27548312 Free PMC article.
Next-generation genotype imputation service and methods.
Das S, Forer L, Schönherr S, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, Schlessinger D, Stambolian D, Loh PR, Iacono WG, Swaroop A, Scott LJ, Cucca F, Kronenberg F, Boehnke M, Abecasis GR, Fuchsberger C. Das S, et al. Among authors: schlessinger d. Nat Genet. 2016 Oct;48(10):1284-1287. doi: 10.1038/ng.3656. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571263 Free PMC article.
Population- and individual-specific regulatory variation in Sardinia.
Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB. Pala M, et al. Among authors: schlessinger d. Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10. Nat Genet. 2017. PMID: 28394350 Free PMC article.
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. Among authors: schlessinger d. 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.
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.
Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG, Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F. Orrù V, et al. Among authors: schlessinger d. Nat Genet. 2020 Oct;52(10):1036-1045. doi: 10.1038/s41588-020-0684-4. Epub 2020 Sep 14. Nat Genet. 2020. PMID: 32929287 Free PMC article.
618 results