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Page 1
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: davidsson ob. 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. Among authors: davidsson ob. Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572. Nat Commun. 2016. PMID: 26838040 Free PMC article.
Epigenetic and genetic components of height regulation.
Benonisdottir S, Oddsson A, Helgason A, Kristjansson RP, Sveinbjornsson G, Oskarsdottir A, Thorleifsson G, Davidsson OB, Arnadottir GA, Sulem G, Jensson BO, Holm H, Alexandersson KF, Tryggvadottir L, Walters GB, Gudjonsson SA, Ward LD, Sigurdsson JK, Iordache PD, Frigge ML, Rafnar T, Kong A, Masson G, Helgason H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Benonisdottir S, et al. Among authors: davidsson ob. Nat Commun. 2016 Nov 16;7:13490. doi: 10.1038/ncomms13490. Nat Commun. 2016. PMID: 27848971 Free PMC article.
Sequence variant at 4q25 near PITX2 associates with appendicitis.
Kristjansson RP, Benonisdottir S, Oddsson A, Galesloot TE, Thorleifsson G, Aben KK, Davidsson OB, Jonsson S, Arnadottir GA, Jensson BO, Walters GB, Sigurdsson JK, Sigurdsson S, Holm H, Arnar DO, Thorgeirsson G, Alexiusdottir K, Jonsdottir I, Thorsteinsdottir U, Kiemeney LA, Jonsson T, Gudbjartsson DF, Rafnar T, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: davidsson ob. Sci Rep. 2017 Jun 8;7(1):3119. doi: 10.1038/s41598-017-03353-0. Sci Rep. 2017. PMID: 28596592 Free PMC article.
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Helgadottir A, Gretarsdottir S, Benonisdottir S, Magnusdottir A, Davidsson OB, Rajamani S, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Jonsdottir I, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. Among authors: davidsson ob. J Am Coll Cardiol. 2017 Oct 24;70(17):2157-2168. doi: 10.1016/j.jacc.2017.09.005. J Am Coll Cardiol. 2017. PMID: 29050564 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: davidsson ob. 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: davidsson ob. 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: davidsson ob. 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: davidsson ob. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Among authors: davidsson ob. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339 Free article.
26 results