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Page 1
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: benediktsson r. Nature. 2020 Aug;584(7822):619-623. doi: 10.1038/s41586-020-2436-0. Epub 2020 Jun 24. Nature. 2020. PMID: 32581359
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: benediktsson r. Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. Nat Commun. 2019. PMID: 30992453 Free PMC article.
Distinction between the effects of parental and fetal genomes on fetal growth.
Juliusdottir T, Steinthorsdottir V, Stefansdottir L, Sveinbjornsson G, Ivarsdottir EV, Thorolfsdottir RB, Sigurdsson JK, Tragante V, Hjorleifsson KE, Helgadottir A, Frigge ML, Thorgeirsson G, Benediktsson R, Sigurdsson EL, Arnar DO, Steingrimsdottir T, Jonsdottir I, Holm H, Gudbjartsson DF, Thorleifsson G, Thorsteinsdottir U, Stefansson K. Juliusdottir T, et al. Among authors: benediktsson r. Nat Genet. 2021 Aug;53(8):1135-1142. doi: 10.1038/s41588-021-00896-x. Epub 2021 Jul 19. Nat Genet. 2021. PMID: 34282336
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A, Rafnar T, Gudbjartsson D, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Blondal T, Stacey SN, Helgason A, Gunnarsdottir S, Olafsdottir A, Kristinsson KT, Birgisdottir B, Ghosh S, Thorlacius S, Magnusdottir D, Stefansdottir G, Kristjansson K, Bagger Y, Wilensky RL, Reilly MP, Morris AD, Kimber CH, Adeyemo A, Chen Y, Zhou J, So WY, Tong PC, Ng MC, Hansen T, Andersen G, Borch-Johnsen K, Jorgensen T, Tres A, Fuertes F, Ruiz-Echarri M, Asin L, Saez B, van Boven E, Klaver S, Swinkels DW, Aben KK, Graif T, Cashy J, Suarez BK, van Vierssen Trip O, Frigge ML, Ober C, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Palmer CN, Rotimi C, Chan JC, Pedersen O, Sigurdsson G, Benediktsson R, Jonsson E, Einarsson GV, Mayordomo JI, Catalona WJ, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Gudmundsson J, et al. Among authors: benediktsson r. Nat Genet. 2007 Aug;39(8):977-83. doi: 10.1038/ng2062. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603485
Parental origin of sequence variants associated with complex diseases.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G; DIAGRAM Consortium; Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: benediktsson r. Nature. 2009 Dec 17;462(7275):868-74. doi: 10.1038/nature08625. Nature. 2009. PMID: 20016592 Free PMC 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: benediktsson r. Nat Genet. 2014 Mar;46(3):294-8. doi: 10.1038/ng.2882. Epub 2014 Jan 26. Nat Genet. 2014. PMID: 24464100
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsén T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa B, Johansson S, Jørgensen T, Jørgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segrè AV, Skärstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njølstad PR, Pedersen O; Go-T2D Consortium; T2D-GENES Consortium; Groop L, Cox DR, Stefansson K, Altshuler D. Flannick J, et al. Among authors: benediktsson r. Nat Genet. 2014 Apr;46(4):357-63. doi: 10.1038/ng.2915. Epub 2014 Mar 2. Nat Genet. 2014. PMID: 24584071 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. Among authors: benediktsson r. Nat Genet. 2017 Sep;49(9):1398-1402. doi: 10.1038/ng.3928. Epub 2017 Aug 7. Nat Genet. 2017. PMID: 28783164
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: benediktsson r. 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: benediktsson r. Nat Commun. 2019 May 24;10(1):2358. doi: 10.1038/s41467-019-10425-4. Nat Commun. 2019. PMID: 31127096 Free PMC article.
100 results