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Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels.
Ji Y, Temprano-Sagrera G, Holle LA, Bebo A, Brody JA, Le NQ, Kangro K, Brown MR, Martinez-Perez A, Sitlani CM, Suchon P, Kleber ME, Emmert DB, Bilge Ozel A, Dobson DA, Tang W, Llobet D, Tracy RP, Deleuze JF, Delgado GE, Gögele M, Wiggins KL, Souto JC, Pankow JS, Taylor KD, Trégouët DA, Moissl AP, Fuchsberger C, Rosendaal FR, Morrison AC, Soria JM, Cushman M, Morange PE, März W, Hicks AA, Desch KC, Johnson AD, de Vries PS; CHARGE Consortium Hemostasis Working Group, INVENT Consortium; Wolberg AS, Smith NL, Sabater-Lleal M. Ji Y, et al. Among authors: fuchsberger c. Arterioscler Thromb Vasc Biol. 2023 Jul;43(7):e254-e269. doi: 10.1161/ATVBAHA.122.318213. Epub 2023 Apr 27. Arterioscler Thromb Vasc Biol. 2023. PMID: 37128921 Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease.
Sakaue S, Gurajala S, Curtis M, Luo Y, Choi W, Ishigaki K, Kang JB, Rumker L, Deutsch AJ, Schönherr S, Forer L, LeFaive J, Fuchsberger C, Han B, Lenz TL, de Bakker PIW, Okada Y, Smith AV, Raychaudhuri S. Sakaue S, et al. Among authors: fuchsberger c. Nat Protoc. 2023 Sep;18(9):2625-2641. doi: 10.1038/s41596-023-00853-4. Epub 2023 Jul 26. Nat Protoc. 2023. PMID: 37495751 Free PMC article. Review.
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.
Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gögele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. Pattaro C, et al. Among authors: fuchsberger c. BMC Med Genet. 2007 Jun 5;8:29. doi: 10.1186/1471-2350-8-29. BMC Med Genet. 2007. PMID: 17550581 Free PMC article.
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Pfeufer A, Sanna S, Arking DE, Müller M, Gateva V, Fuchsberger C, Ehret GB, Orrú M, Pattaro C, Köttgen A, Perz S, Usala G, Barbalic M, Li M, Pütz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Mühleisen TW, Dei M, Happle C, Möhlenkamp S, Crisponi L, Erbel R, Jöckel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Müller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kääb S, Abecasis GR, Chakravarti A. Pfeufer A, et al. Among authors: fuchsberger c. Nat Genet. 2009 Apr;41(4):407-14. doi: 10.1038/ng.362. Epub 2009 Mar 22. Nat Genet. 2009. PMID: 19305409 Free PMC article.
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.
Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, Timpson NJ, Richards JB, Perry JR, Tanaka T, Amin N, Kollerits B, Pichler I, Oostra BA, Thorand B, Frants RR, Illig T, Dupuis J, Glaser B, Spector T, Guralnik J, Egan JM, Florez JC, Evans DM, Soranzo N, Bandinelli S, Carlson OD, Frayling TM, Burling K, Smith GD, Mooser V, Ferrucci L, Meigs JB, Vollenweider P, Dijk KW, Pramstaller P, Kronenberg F, van Duijn CM. Heid IM, et al. Among authors: fuchsberger c. Atherosclerosis. 2010 Feb;208(2):412-20. doi: 10.1016/j.atherosclerosis.2009.11.035. Epub 2009 Dec 2. Atherosclerosis. 2010. PMID: 20018283 Free PMC article.
167 results