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Page 1
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: oddsson a. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
Glcci1 deficiency leads to proteinuria.
Nishibori Y, Katayama K, Parikka M, Oddsson A, Nukui M, Hultenby K, Wernerson A, He B, Ebarasi L, Raschperger E, Norlin J, Uhlén M, Patrakka J, Betsholtz C, Tryggvason K. Nishibori Y, et al. Among authors: oddsson a. J Am Soc Nephrol. 2011 Nov;22(11):2037-46. doi: 10.1681/ASN.2010111147. Epub 2011 Sep 23. J Am Soc Nephrol. 2011. PMID: 21949092 Free PMC article.
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: oddsson a. Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5. Nature. 2013. PMID: 23644456
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. 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.
Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H, Rafnar T, Olafsdottir HS, Jonasson JG, Sigurdsson A, Stacey SN, Jonasdottir A, Tryggvadottir L, Alexiusdottir K, Haraldsson A, le Roux L, Gudmundsson J, Johannsdottir H, Oddsson A, Gylfason A, Magnusson OT, Masson G, Jonsson T, Skuladottir H, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Helgason H, et al. Among authors: oddsson a. Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22. Nat Genet. 2015. PMID: 26098866
Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjörnsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K. Oddsson A, et al. Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975. Nat Commun. 2015. PMID: 26272126 Free PMC article.
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
Gretarsdottir S, Helgason H, Helgadottir A, Sigurdsson A, Thorleifsson G, Magnusdottir A, Oddsson A, Steinthorsdottir V, Rafnar T, de Graaf J, Daneshpour MS, Hedayati M, Azizi F, Grarup N, Jørgensen T, Vestergaard H, Hansen T, Eyjolfsson G, Sigurdardottir O, Olafsson I, Kiemeney LA, Pedersen O, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K. Gretarsdottir S, et al. Among authors: oddsson a. PLoS Genet. 2015 Sep 1;11(9):e1005379. doi: 10.1371/journal.pgen.1005379. eCollection 2015 Sep. PLoS Genet. 2015. PMID: 26327206 Free PMC article.
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
Kristjansson RP, Oddsson A, Helgason H, Sveinbjornsson G, Arnadottir GA, Jensson BO, Jonasdottir A, Jonasdottir A, Bragi Walters G, Sulem G, Oskarsdottir A, Benonisdottir S, Davidsson OB, Masson G, Magnusson OT, Holm H, Sigurdardottir O, Jonsdottir I, Eyjolfsson GI, Olafsson I, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: oddsson a. Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572. Nat Commun. 2016. PMID: 26838040 Free PMC article.
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A, Gretarsdottir S, Thorleifsson G, Hjartarson E, Sigurdsson A, Magnusdottir A, Jonasdottir A, Kristjansson H, Sulem P, Oddsson A, Sveinbjornsson G, Steinthorsdottir V, Rafnar T, Masson G, Jonsdottir I, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Daneshpour MS, Khalili D, Azizi F, Swinkels DW, Kiemeney L, Quyyumi AA, Levey AI, Patel RS, Hayek SS, Gudmundsdottir IJ, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Among authors: oddsson a. Nat Genet. 2016 Jun;48(6):634-9. doi: 10.1038/ng.3561. Epub 2016 May 2. Nat Genet. 2016. PMID: 27135400 Free PMC article.
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
Gudbjartsson DF, Holm H, Sulem P, Masson G, Oddsson A, Magnusson OT, Saemundsdottir J, Helgadottir HT, Helgason H, Johannsdottir H, Gretarsdottir S, Gudjonsson SA, Njølstad I, Løchen ML, Baum L, Ma RC, Sigfusson G, Kong A, Thorgeirsson G, Sverrisson JT, Thorsteinsdottir U, Stefansson K, Arnar DO. Gudbjartsson DF, et al. Among authors: oddsson a. Eur Heart J. 2017 Jan 1;38(1):27-34. doi: 10.1093/eurheartj/ehw379. Epub 2016 Oct 14. Eur Heart J. 2017. PMID: 27742809
78 results