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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: melsted p. Nature. 2020 Aug;584(7822):619-623. doi: 10.1038/s41586-020-2436-0. Epub 2020 Jun 24. Nature. 2020. PMID: 32581359
Diversity in non-repetitive human sequences not found in the reference genome.
Kehr B, Helgadottir A, Melsted P, Jonsson H, Helgason H, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gylfason A, Halldorsson GH, Kristmundsdottir S, Thorgeirsson G, Olafsson I, Holm H, Thorsteinsdottir U, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kehr B, et al. Among authors: melsted p. Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250455
Graphtyper enables population-scale genotyping using pangenome graphs.
Eggertsson HP, Jonsson H, Kristmundsdottir S, Hjartarson E, Kehr B, Masson G, Zink F, Hjorleifsson KE, Jonasdottir A, Jonasdottir A, Jonsdottir I, Gudbjartsson DF, Melsted P, Stefansson K, Halldorsson BV. Eggertsson HP, et al. Among authors: melsted p. Nat Genet. 2017 Nov;49(11):1654-1660. doi: 10.1038/ng.3964. Epub 2017 Sep 25. Nat Genet. 2017. PMID: 28945251
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: melsted p. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.
Zink F, Magnusdottir DN, Magnusson OT, Walker NJ, Morris TJ, Sigurdsson A, Halldorsson GH, Gudjonsson SA, Melsted P, Ingimundardottir H, Kristmundsdottir S, Alexandersson KF, Helgadottir A, Gudmundsson J, Rafnar T, Jonsdottir I, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Gudbjartsson DF, Thorsteinsdottir U, Halldorsson BV, Stacey SN, Stefansson K. Zink F, et al. Among authors: melsted p. Nat Genet. 2018 Nov;50(11):1542-1552. doi: 10.1038/s41588-018-0232-7. Epub 2018 Oct 22. Nat Genet. 2018. PMID: 30349119
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: melsted p. Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. Nat Commun. 2019. PMID: 30992453 Free PMC article.
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: melsted p. Commun Biol. 2020 Mar 17;3(1):129. doi: 10.1038/s42003-020-0857-9. Commun Biol. 2020. PMID: 32184442 Free PMC article.
Spread of SARS-CoV-2 in the Icelandic Population.
Gudbjartsson DF, Helgason A, Jonsson H, Magnusson OT, Melsted P, Norddahl GL, Saemundsdottir J, Sigurdsson A, Sulem P, Agustsdottir AB, Eiriksdottir B, Fridriksdottir R, Gardarsdottir EE, Georgsson G, Gretarsdottir OS, Gudmundsson KR, Gunnarsdottir TR, Gylfason A, Holm H, Jensson BO, Jonasdottir A, Jonsson F, Josefsdottir KS, Kristjansson T, Magnusdottir DN, le Roux L, Sigmundsdottir G, Sveinbjornsson G, Sveinsdottir KE, Sveinsdottir M, Thorarensen EA, Thorbjornsson B, Löve A, Masson G, Jonsdottir I, Möller AD, Gudnason T, Kristinsson KG, Thorsteinsdottir U, Stefansson K. Gudbjartsson DF, et al. Among authors: melsted p. N Engl J Med. 2020 Jun 11;382(24):2302-2315. doi: 10.1056/NEJMoa2006100. Epub 2020 Apr 14. N Engl J Med. 2020. PMID: 32289214 Free PMC article.
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