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Page 1
Sequence variants affecting voice pitch in humans.
Gisladottir RS, Helgason A, Halldorsson BV, Helgason H, Borsky M, Chien YR, Gudnason J, Gudjonsson SA, Moisik S, Dediu D, Thorleifsson G, Tragante V, Bustamante M, Jonsdottir GA, Stefansdottir L, Rutsdottir G, Magnusson SH, Hardarson M, Ferkingstad E, Halldorsson GH, Rognvaldsson S, Skuladottir A, Ivarsdottir EV, Norddahl G, Thorgeirsson G, Jonsdottir I, Ulfarsson MO, Holm H, Stefansson H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Gisladottir RS, et al. Among authors: ivarsdottir ev. Sci Adv. 2023 Jun 9;9(23):eabq2969. doi: 10.1126/sciadv.abq2969. Epub 2023 Jun 9. Sci Adv. 2023. PMID: 37294764 Free PMC article.
Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.
Ivarsdottir EV, Steinthorsdottir V, Daneshpour MS, Thorleifsson G, Sulem P, Holm H, Sigurdsson S, Hreidarsson AB, Sigurdsson G, Bjarnason R, Thorsson AV, Benediktsson R, Eyjolfsson G, Sigurdardottir O, Olafsson I, Zeinali S, Azizi F, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Nat Genet. 2017 Sep;49(9):1398-1402. doi: 10.1038/ng.3928. Epub 2017 Aug 7. Nat Genet. 2017. PMID: 28783164
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: ivarsdottir ev. 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: ivarsdottir ev. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: ivarsdottir ev. Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x. Nat Commun. 2018. PMID: 30361506 Free PMC article.
Sequence variants associating with urinary biomarkers.
Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, Stefansson K. Benonisdottir S, et al. Among authors: ivarsdottir ev. Hum Mol Genet. 2019 Apr 1;28(7):1199-1211. doi: 10.1093/hmg/ddy409. Hum Mol Genet. 2019. PMID: 30476138 Free PMC article.
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
Ivarsdottir EV, Benonisdottir S, Thorleifsson G, Sulem P, Oddsson A, Styrkarsdottir U, Kristmundsdottir S, Arnadottir GA, Thorgeirsson G, Jonsdottir I, Zoega GM, Thorsteinsdottir U, Gudbjartsson DF, Jonasson F, Holm H, Stefansson K. Ivarsdottir EV, et al. Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9. Nat Commun. 2019. PMID: 30894546 Free PMC article.
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Bjornsdottir G, Ivarsdottir EV, Bjarnadottir K, Benonisdottir S, Gylfadottir SS, Arnadottir GA, Benediktsson R, Halldorsson GH, Helgadottir A, Jonasdottir A, Jonasdottir A, Jonsdottir I, Kristinsdottir AM, Magnusson OT, Masson G, Melsted P, Rafnar T, Sigurdsson A, Sigurdsson G, Skuladottir A, Steinthorsdottir V, Styrkarsdottir U, Thorgeirsson G, Thorleifsson G, Vikingsson A, Gudbjartsson DF, Holm H, Stefansson H, Thorsteinsdottir U, Norddahl GL, Sulem P, Thorgeirsson TE, Stefansson K. Bjornsdottir G, et al. Among authors: ivarsdottir ev. Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. Nat Commun. 2019. PMID: 30992453 Free PMC article.
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
Styrkarsdottir U, Stefansson OA, Gunnarsdottir K, Thorleifsson G, Lund SH, Stefansdottir L, Juliusson K, Agustsdottir AB, Zink F, Halldorsson GH, Ivarsdottir EV, Benonisdottir S, Jonsson H, Gylfason A, Norland K, Trajanoska K, Boer CG, Southam L, Leung JCS, Tang NLS, Kwok TCY, Lee JSW, Ho SC, Byrjalsen I, Center JR, Lee SH, Koh JM, Lohmander LS, Ho-Pham LT, Nguyen TV, Eisman JA, Woo J, Leung PC, Loughlin J, Zeggini E, Christiansen C, Rivadeneira F, van Meurs J, Uitterlinden AG, Mogensen B, Jonsson H, Ingvarsson T, Sigurdsson G, Benediktsson R, Sulem P, Jonsdottir I, Masson G, Holm H, Norddahl GL, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Styrkarsdottir U, et al. Among authors: ivarsdottir ev. Nat Commun. 2019 May 3;10(1):2054. doi: 10.1038/s41467-019-09860-0. Nat Commun. 2019. PMID: 31053729 Free PMC article.
Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
Styrkarsdottir U, Stefansson OA, Gunnarsdottir K, Thorleifsson G, Lund SH, Stefansdottir L, Juliusson K, Agustsdottir AB, Zink F, Halldorsson GH, Ivarsdottir EV, Benonisdottir S, Jonsson H, Gylfason A, Norland K, Trajanoska K, Boer CG, Southam L, Leung JCS, Tang NLS, Kwok TCY, Lee JSW, Ho SC, Byrjalsen I, Center JR, Lee SH, Koh JM, Lohmander LS, Ho-Pham LT, Nguyen TV, Eisman JA, Woo J, Leung PC, Loughlin J, Zeggini E, Christiansen C, Rivadeneira F, van Meurs J, Uitterlinden AG, Mogensen B, Jonsson H, Ingvarsson T, Sigurdsson G, Benediktsson R, Sulem P, Jonsdottir I, Masson G, Holm H, Norddahl GL, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Styrkarsdottir U, et al. Among authors: ivarsdottir ev. Nat Commun. 2019 May 24;10(1):2358. doi: 10.1038/s41467-019-10425-4. Nat Commun. 2019. PMID: 31127096 Free PMC article.
38 results