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Page 1
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: helgason h. 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.
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: helgason h, helgason a. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. Nature. 2012. PMID: 22914163 Free PMC article.
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Helgason H, Sulem P, Duvvari MR, Luo H, Thorleifsson G, Stefansson H, Jonsdottir I, Masson G, Gudbjartsson DF, Walters GB, Magnusson OT, Kong A, Rafnar T, Kiemeney LA, Schoenmaker-Koller FE, Zhao L, Boon CJ, Song Y, Fauser S, Pei M, Ristau T, Patel S, Liakopoulos S, van de Ven JP, Hoyng CB, Ferreyra H, Duan Y, Bernstein PS, Geirsdottir A, Helgadottir G, Stefansson E, den Hollander AI, Zhang K, Jonasson F, Sigurdsson H, Thorsteinsdottir U, Stefansson K. Helgason H, et al. Nat Genet. 2013 Nov;45(11):1371-4. doi: 10.1038/ng.2740. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036950
A common variant at 8q24.21 is associated with renal cell cancer.
Gudmundsson J, Sulem P, Gudbjartsson DF, Masson G, Petursdottir V, Hardarson S, Gudjonsson SA, Johannsdottir H, Helgadottir HT, Stacey SN, Magnusson OT, Helgason H, Panadero A, van der Zanden LF, Aben KK, Vermeulen SH, Oosterwijk E, Kong A, Mayordomo JI, Sverrisdottir A, Jonsson E, Gudbjartsson T, Einarsson GV, Kiemeney LA, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: helgason h. Nat Commun. 2013;4:2776. doi: 10.1038/ncomms3776. Nat Commun. 2013. PMID: 24220699 Free article.
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Steinthorsdottir V, Thorleifsson G, Sulem P, Helgason H, Grarup N, Sigurdsson A, Helgadottir HT, Johannsdottir H, Magnusson OT, Gudjonsson SA, Justesen JM, Harder MN, Jørgensen ME, Christensen C, Brandslund I, Sandbæk A, Lauritzen T, Vestergaard H, Linneberg A, Jørgensen T, Hansen T, Daneshpour MS, Fallah MS, Hreidarsson AB, Sigurdsson G, Azizi F, Benediktsson R, Masson G, Helgason A, Kong A, Gudbjartsson DF, Pedersen O, Thorsteinsdottir U, Stefansson K. Steinthorsdottir V, et al. Among authors: helgason h, helgason a. Nat Genet. 2014 Mar;46(3):294-8. doi: 10.1038/ng.2882. Epub 2014 Jan 26. Nat Genet. 2014. PMID: 24464100
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: helgason h. 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.
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
Rafnar T, Sulem P, Thorleifsson G, Vermeulen SH, Helgason H, Saemundsdottir J, Gudjonsson SA, Sigurdsson A, Stacey SN, Gudmundsson J, Johannsdottir H, Alexiusdottir K, Petursdottir V, Nikulasson S, Geirsson G, Jonsson T, Aben KK, Grotenhuis AJ, Verhaegh GW, Dudek AM, Witjes JA, van der Heijden AG, Vrieling A, Galesloot TE, De Juan A, Panadero A, Rivera F, Hurst C, Bishop DT, Sak SC, Choudhury A, Teo MT, Arici C, Carta A, Toninelli E, de Verdier P, Rudnai P, Gurzau E, Koppova K, van der Keur KA, Lurkin I, Goossens M, Kellen E, Guarrera S, Russo A, Critelli R, Sacerdote C, Vineis P, Krucker C, Zeegers MP, Gerullis H, Ovsiannikov D, Volkert F, Hengstler JG, Selinski S, Magnusson OT, Masson G, Kong A, Gudbjartsson D, Lindblom A, Zwarthoff E, Porru S, Golka K, Buntinx F, Matullo G, Kumar R, Mayordomo JI, Steineck DG, Kiltie AE, Jonsson E, Radvanyi F, Knowles MA, Thorsteinsdottir U, Kiemeney LA, Stefansson K. Rafnar T, et al. Among authors: helgason h. Hum Mol Genet. 2014 Oct 15;23(20):5545-57. doi: 10.1093/hmg/ddu264. Epub 2014 May 26. Hum Mol Genet. 2014. PMID: 24861552 Free article.
Identification of a large set of rare complete human knockouts.
Sulem P, Helgason H, Oddson A, Stefansson H, Gudjonsson SA, Zink F, Hjartarson E, Sigurdsson GT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Kong A, Helgason A, Holm H, Thorsteinsdottir U, Masson G, Gudbjartsson DF, Stefansson K. Sulem P, et al. Among authors: helgason h, helgason a. Nat Genet. 2015 May;47(5):448-52. doi: 10.1038/ng.3243. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807282
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ; DemGene; Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M, Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J, Stefansson K. Steinberg S, et al. Among authors: helgason h. Nat Genet. 2015 May;47(5):445-7. doi: 10.1038/ng.3246. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807283 Free article.
130 results