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Page 1
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.
Kristjansson RP, Oskarsson GR, Skuladottir A, Oddsson A, Rognvaldsson S, Sveinbjornsson G, Lund SH, Jensson BO, Styrmisdottir EL, Halldorsson GH, Ferkingstad E, Eldjarn GH, Beyter D, Kristmundsdottir S, Juliusson K, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Snorradottir MH, Tragante V, Stefansdottir L, Ivarsdottir EV, Bjornsdottir G, Halldorsson BV, Thorleifsson G, Ludviksson BR, Onundarson PT, Saevarsdottir S, Melsted P, Norddahl GL, Bjornsdottir US, Olafsdottir T, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K. Kristjansson RP, et al. Commun Biol. 2023 Jul 10;6(1):703. doi: 10.1038/s42003-023-05079-4. Commun Biol. 2023. PMID: 37430141 Free PMC article.
Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.
Rafnar T, Gunnarsson B, Stefansson OA, Sulem P, Ingason A, Frigge ML, Stefansdottir L, Sigurdsson JK, Tragante V, Steinthorsdottir V, Styrkarsdottir U, Stacey SN, Gudmundsson J, Arnadottir GA, Oddsson A, Zink F, Halldorsson G, Sveinbjornsson G, Kristjansson RP, Davidsson OB, Salvarsdottir A, Thoroddsen A, Helgadottir EA, Kristjansdottir K, Ingthorsson O, Gudmundsson V, Geirsson RT, Arnadottir R, Gudbjartsson DF, Masson G, Asselbergs FW, Jonasson JG, Olafsson K, Thorsteinsdottir U, Halldorsson BV, Thorleifsson G, Stefansson K. Rafnar T, et al. Among authors: kristjansson rp. Nat Commun. 2018 Sep 7;9(1):3636. doi: 10.1038/s41467-018-05428-6. Nat Commun. 2018. PMID: 30194396 Free PMC article.
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: kristjansson rp. Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018. Commun Biol. 2018. PMID: 30271901 Free PMC article.
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J, Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: kristjansson rp. Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018. Commun Biol. 2018. PMID: 30271932 Free PMC article.
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Nielsen JB, Jonsson S, Halldorsson GH, Melsted P, Ivarsdottir EV, Davidsson OB, Kristjansson RP, Thorleifsson G, Helgadottir A, Gretarsdottir S, Norddahl G, Rajamani S, Torfason B, Valgardsson AS, Sverrisson JT, Tragante V, Holmen OL, Asselbergs FW, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Willer CJ, Løchen ML, Halldorsson BV, Jonsdottir I, Hveem K, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. Among authors: kristjansson rp. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E, Oddsson A, Gretarsdottir S, Benonisdottir S, Thorleifsson G, Deaton AM, Jonsson S, Stefansson OA, Norddahl GL, Zink F, Arnadottir GA, Gunnarsson B, Halldorsson GH, Helgadottir A, Jensson BO, Kristjansson RP, Sveinbjornsson G, Sverrisson DA, Masson G, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Holm H, Jonsdottir I, Olafsson S, Steingrimsdottir T, Rafnar T, Bjornsson ES, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Ferkingstad E, et al. Among authors: kristjansson rp. Nat Commun. 2018 Nov 30;9(1):5101. doi: 10.1038/s41467-018-07460-y. Nat Commun. 2018. PMID: 30504769 Free PMC article.
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
Kristjansson RP, Benonisdottir S, Davidsson OB, Oddsson A, Tragante V, Sigurdsson JK, Stefansdottir L, Jonsson S, Jensson BO, Arthur JG, Arnadottir GA, Sulem G, Halldorsson BV, Gunnarsson B, Halldorsson GH, Stefansson OA, Oskarsson GR, Deaton AM, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Onundarson PT, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Olafsdottir TA, Rafnar T, Masson G, Zink F, Bjornsdottir G, Magnusson OT, Bjornsdottir US, Thorleifsson G, Norddahl GL, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K. Kristjansson RP, et al. Nat Genet. 2019 Feb;51(2):267-276. doi: 10.1038/s41588-018-0314-6. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643255
Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.
Olafsdottir T, Thorleifsson G, Sulem P, Stefansson OA, Medek H, Olafsson K, Ingthorsson O, Gudmundsson V, Jonsdottir I, Halldorsson GH, Kristjansson RP, Frigge ML, Stefansdottir L, Sigurdsson JK, Oddsson A, Sigurdsson A, Eggertsson HP, Melsted P, Halldorsson BV, Lund SH, Styrkarsdottir U, Steinthorsdottir V, Gudmundsson J, Holm H, Tragante V, Asselbergs FW, Thorsteinsdottir U, Gudbjartsson DF, Jonsdottir K, Rafnar T, Stefansson K. Olafsdottir T, et al. Among authors: kristjansson rp. Commun Biol. 2020 Mar 17;3(1):129. doi: 10.1038/s42003-020-0857-9. Commun Biol. 2020. PMID: 32184442 Free PMC article.
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Oskarsson GR, Oddsson A, Magnusson MK, Kristjansson RP, Halldorsson GH, Ferkingstad E, Zink F, Helgadottir A, Ivarsdottir EV, Arnadottir GA, Jensson BO, Katrinardottir H, Sveinbjornsson G, Kristinsdottir AM, Lee AL, Saemundsdottir J, Stefansdottir L, Sigurdsson JK, Davidsson OB, Benonisdottir S, Jonasdottir A, Jonasdottir A, Jonsson S, Gudmundsson RL, Asselbergs FW, Tragante V, Gunnarsson B, Masson G, Thorleifsson G, Rafnar T, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: kristjansson rp. Commun Biol. 2020 Apr 23;3(1):189. doi: 10.1038/s42003-020-0921-5. Commun Biol. 2020. PMID: 32327693 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. Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572. Nat Commun. 2016. PMID: 26838040 Free PMC article.
21 results