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Year Number of Results
2001 1
2002 2
2003 4
2004 2
2005 4
2006 1
2007 2
2008 4
2009 2
2010 6
2011 1
2012 3
2013 3
2014 2
2015 9
2016 2
2017 6
2018 1
2020 2
2021 1
2023 1
2024 1

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54 results

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Page 1
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y, Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T, Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F, Campbell H, Cappuccio FP… See abstract for full author list ➔ Speliotes EK, et al. Among authors: busonero f. Nat Genet. 2010 Nov;42(11):937-48. doi: 10.1038/ng.686. Epub 2010 Oct 10. Nat Genet. 2010. PMID: 20935630 Free PMC article.
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, Baber U, Ballantyne CM, Bang LE, Benn M, Bis JC, Boehnke M, Boerwinkle E, Bork-Jensen J, Bottinger EP, Brandslund I, Brown M, Busonero F, Caulfield MJ, Chambers JC, Chasman DI, Chen YE, Chen YI, Chowdhury R, Christensen C, Chu AY, Connell JM, Cucca F, Cupples LA, Damrauer SM, Davies G, Deary IJ, Dedoussis G, Denny JC, Dominiczak A, Dubé MP, Ebeling T, Eiriksdottir G, Esko T, Farmaki AE, Feitosa MF, Ferrario M, Ferrieres J, Ford I, Fornage M, Franks PW, Frayling TM, Frikke-Schmidt R, Fritsche LG, Frossard P, Fuster V, Ganesh SK, Gao W, Garcia ME, Gieger C, Giulianini F, Goodarzi MO, Grallert H, Grarup N, Groop L, Grove ML, Gudnason V, Hansen T, Harris TB, Hayward C, Hirschhorn JN, Holmen OL, Huffman J, Huo Y, Hveem K, Jabeen S, Jackson AU, Jakobsdottir J, Jarvelin MR, Jensen GB, Jørgensen ME, Jukema JW, Justesen JM, Kamstrup PR, Kanoni S, Karpe F, Kee F, Khera AV, Klarin D, Koistinen HA, Kooner JS, Kooperberg C, Kuulasmaa K, Kuusisto J, Laakso M, Lakka T, Langenberg C, Langsted A, Launer LJ, Lauritzen T, Liewald DCM… See abstract for full author list ➔ Liu DJ, et al. Among authors: busonero f. Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977. Epub 2017 Oct 30. Nat Genet. 2017. PMID: 29083408 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. Among authors: busonero f. 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.
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: busonero f. 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.
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: busonero f. 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.
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M. Sidore C, et al. Among authors: busonero f. Mult Scler. 2021 Aug;27(9):1332-1340. doi: 10.1177/1352458520963937. Epub 2020 Oct 14. Mult Scler. 2021. PMID: 33566725 Free PMC article.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F, Steri M, Orrù V, Sole G, Olla S, Marongiu M, Maschio A, Sidore C, Lai S, Mulas A, Zoledziewska M, Floris M, Pala M, Forabosco P, Asunis I, Pitzalis M, Deidda F, Masala M, Caria CA, Barella S, Abecasis GR, Schlessinger D, Sanna S, Fiorillo E, Cucca F. Busonero F, et al. Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20. Br J Haematol. 2020. PMID: 33216977 Free PMC article. No abstract available.
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: busonero f. 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.
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Marongiu M, Pérez-Mejías G, Orrù V, Steri M, Sidore C, Díaz-Quintana A, Mulas A, Busonero F, Maschio A, Walter K, Tardaguila M, Akbari P, Soranzo N, Fiorillo E, Gorospe M, Schlessinger D, Díaz-Moreno I, Cucca F, Zoledziewska M. Marongiu M, et al. Among authors: busonero f. Hum Mol Genet. 2023 Feb 19;32(5):790-797. doi: 10.1093/hmg/ddac238. Hum Mol Genet. 2023. PMID: 36136759 Free PMC article.
Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past.
Olivieri A, Sidore C, Achilli A, Angius A, Posth C, Furtwängler A, Brandini S, Capodiferro MR, Gandini F, Zoledziewska M, Pitzalis M, Maschio A, Busonero F, Lai L, Skeates R, Gradoli MG, Beckett J, Marongiu M, Mazzarello V, Marongiu P, Rubino S, Rito T, Macaulay V, Semino O, Pala M, Abecasis GR, Schlessinger D, Conde-Sousa E, Soares P, Richards MB, Cucca F, Torroni A. Olivieri A, et al. Among authors: busonero f. Mol Biol Evol. 2017 May 1;34(5):1230-1239. doi: 10.1093/molbev/msx082. Mol Biol Evol. 2017. PMID: 28177087 Free PMC article.
54 results