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Page 1
The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms.
Oddsson A, Kristinsson SY, Helgason H, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Steingrimsdottir H, Vidarsson B, Reykdal S, Eyjolfsson GI, Olafsson I, Onundarson PT, Runarsson G, Sigurdardottir O, Kong A, Rafnar T, Sulem P, Thorsteinsdottir U, Stefansson K. Oddsson A, et al. Among authors: sigurdsson a. Leukemia. 2014 Jun;28(6):1371-4. doi: 10.1038/leu.2014.48. Epub 2014 Jan 30. Leukemia. 2014. PMID: 24476768 Free PMC article. No abstract available.
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A; Swedish Low-risk Colorectal Cancer Study Group; Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ,… See abstract for full author list ➔ Stacey SN, et al. Among authors: sigurdsson f, sigurdsson h, sigurdsson a. Nat Genet. 2011 Sep 25;43(11):1098-103. doi: 10.1038/ng.926. Nat Genet. 2011. PMID: 21946351 Free PMC article.
Rate of de novo mutations and the importance of father's age to disease risk.
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: sigurdsson g, sigurdsson a. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. Nature. 2012. PMID: 22914163 Free PMC article.
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, Hasegawa H, Brown M, Ketchem RR, Gavala M, Garrett L, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Eyjolfsson GI, Olafsson I, Onundarson PT, Sigurdardottir O, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Boezen HM, Heinzmann A, Krueger M, Porsbjerg C, Ahluwalia TS, Waage J, Backer V, Deichmann KA, Koppelman GH, Bønnelykke K, Bisgaard H, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Johnston JA, Jonsdottir I, Stefansson K. Smith D, et al. Among authors: sigurdsson a. PLoS Genet. 2017 Mar 8;13(3):e1006659. doi: 10.1371/journal.pgen.1006659. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28273074 Free PMC article.
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Bjornsson E, Helgason H, Halldorsson G, Helgadottir A, Gylfason A, Kehr B, Jonasdottir A, Jonasdottir A, Sigurdsson A, Oddsson A, Thorleifsson G, Magnusson OT, Gretarsdottir S, Zink F, Kristjansson RP, Asgeirsdottir M, Swinkels DW, Kiemeney LA, Eyjolfsson GI, Sigurdardottir O, Masson G, Olafsson I, Thorgeirsson G, Holm H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Bjornsson E, et al. Among authors: sigurdsson a. Hum Mol Genet. 2017 Jun 15;26(12):2364-2376. doi: 10.1093/hmg/ddx123. Hum Mol Genet. 2017. PMID: 28398513
Identification of sequence variants influencing immunoglobulin levels.
Jonsson S, Sveinbjornsson G, de Lapuente Portilla AL, Swaminathan B, Plomp R, Dekkers G, Ajore R, Ali M, Bentlage AEH, Elmér E, Eyjolfsson GI, Gudjonsson SA, Gullberg U, Gylfason A, Halldorsson BV, Hansson M, Holm H, Johansson Å, Johnsson E, Jonasdottir A, Ludviksson BR, Oddsson A, Olafsson I, Olafsson S, Sigurdardottir O, Sigurdsson A, Stefansdottir L, Masson G, Sulem P, Wuhrer M, Wihlborg AK, Thorleifsson G, Gudbjartsson DF, Thorsteinsdottir U, Vidarsson G, Jonsdottir I, Nilsson B, Stefansson K. Jonsson S, et al. Among authors: sigurdsson a. Nat Genet. 2017 Aug;49(8):1182-1191. doi: 10.1038/ng.3897. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628107
A rare missense variant in NR1H4 associates with lower cholesterol levels.
Deaton AM, Sulem P, Nioi P, Benonisdottir S, Ward LD, Davidsson OB, Lao S, Helgadottir A, Fan F, Jensson BO, Norddahl GL, Jonasdottir A, Jonasdottir A, Sigurdsson A, Kristjansson RP, Oddsson A, Arnadottir GA, Jonsson H, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Bjornsson ES, Olafsson S, Steingrimsdottir T, Rafnar T, Thorgeirsson G, Masson G, Thorleifsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K. Deaton AM, et al. Among authors: sigurdsson a. Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018. Commun Biol. 2018. PMID: 30271901 Free PMC article.
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blöndal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Höiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O, Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Among authors: sigurdsson a. Nat Genet. 2009 Feb;41(2):221-7. doi: 10.1038/ng.296. Epub 2009 Jan 18. Nat Genet. 2009. PMID: 19151717 Free PMC article.
Genetic correction of PSA values using sequence variants associated with PSA levels.
Gudmundsson J, Besenbacher S, Sulem P, Gudbjartsson DF, Olafsson I, Arinbjarnarson S, Agnarsson BA, Benediktsdottir KR, Isaksson HJ, Kostic JP, Gudjonsson SA, Stacey SN, Gylfason A, Sigurdsson A, Holm H, Bjornsdottir US, Eyjolfsson GI, Navarrete S, Fuertes F, Garcia-Prats MD, Polo E, Checherita IA, Jinga M, Badea P, Aben KK, Schalken JA, van Oort IM, Sweep FC, Helfand BT, Davis M, Donovan JL, Hamdy FC, Kristjansson K, Gulcher JR, Masson G, Kong A, Catalona WJ, Mayordomo JI, Geirsson G, Einarsson GV, Barkardottir RB, Jonsson E, Jinga V, Mates D, Kiemeney LA, Neal DE, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: sigurdsson a. Sci Transl Med. 2010 Dec 15;2(62):62ra92. doi: 10.1126/scitranslmed.3001513. Sci Transl Med. 2010. PMID: 21160077 Free PMC article.
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K. Holm H, et al. Among authors: sigurdsson a. Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781. Nat Genet. 2011. PMID: 21378987 Free PMC article.
276 results