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51 results

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Page 1
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Skuladottir AT, Stefansdottir L, Halldorsson GH, Stefansson OA, Bjornsdottir A, Jonsson P, Palmadottir V, Thorgeirsson TE, Walters GB, Gisladottir RS, Bjornsdottir G, Jonsdottir GA, Sulem P, Gudbjartsson DF, Knowlton KU, Jones DA, Ottas A; Estonian Biobank; Pedersen OB, Didriksen M, Brunak S, Banasik K, Hansen TF, Erikstrup C; DBDS Genomic Consortium; Haavik J, Andreassen OA, Rye D, Igland J, Ostrowski SR, Milani LA, Nadauld LD, Stefansson H, Stefansson K. Skuladottir AT, et al. Among authors: stefansdottir l. Commun Biol. 2024 Apr 26;7(1):504. doi: 10.1038/s42003-024-06207-4. Commun Biol. 2024. PMID: 38671141 Free PMC article.
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.
Steinthorsdottir V, Halldorsson BV, Jonsson H, Palsson G, Oddsson A, Westergaard D, Arnadottir GA, Stefansdottir L, Banasik K, Esplin MS, Hansen TF, Brunak S, Nyegaard M, Ostrowski SR, Pedersen OBV, Erikstrup C; DBDS genomics consortium; Thorleifsson G, Nadauld LD, Haraldsson A, Steingrimsdottir T, Tryggvadottir L, Jonsdottir I, Gudbjartsson DF, Hoffmann ER, Sulem P, Holm H, Nielsen HS, Stefansson K. Steinthorsdottir V, et al. Among authors: stefansdottir l. Nat Struct Mol Biol. 2024 Apr;31(4):710-716. doi: 10.1038/s41594-023-01209-y. Epub 2024 Jan 29. Nat Struct Mol Biol. 2024. PMID: 38287193 Free PMC article.
Variants at the Interleukin 1 Gene Locus and Pericarditis.
Thorolfsdottir RB, Jonsdottir AB, Sveinbjornsson G, Aegisdottir HM, Oddsson A, Stefansson OA, Halldorsson GH, Saevarsdottir S, Thorleifsson G, Stefansdottir L, Pedersen OB, Sørensen E, Ghouse J, Raja AA, Zheng C, Silajdzija E, Rand SA, Erikstrup C, Ullum H, Mikkelsen C, Banasik K, Brunak S, Ivarsdottir EV, Sigurdsson A, Beyter D, Sturluson A, Einarsson H, Tragante V, Helgason H, Lund SH, Halldorsson BV, Sigurpalsdottir BD, Olafsson I, Arnar DO, Thorgeirsson G, Knowlton KU, Nadauld LD, Gretarsdottir S, Helgadottir A, Ostrowski SR, Gudbjartssson DF, Jonsdottir I, Bundgaard H, Holm H, Sulem P, Stefansson K; Danish Blood Donor Study Genomic Consortium. Thorolfsdottir RB, et al. Among authors: stefansdottir l. JAMA Cardiol. 2024 Feb 1;9(2):165-172. doi: 10.1001/jamacardio.2023.4820. JAMA Cardiol. 2024. PMID: 38150231
Obesity variants in the GIPR gene do not associate with risk of fracture or bone mineral density.
Styrkarsdottir U, Tragante V, Stefansdottir L, Thorleifsson G, Oddsson A, Sørensen E, Erikstrup C, Schwarz P, Jørgensen HL, Lauritzen JB, Brunak S, Knowlton KU, Nadauld LD, Ullum H, Pedersen OBV, Ostrowski SR, Holm H, Gudbjartsson DF, Sulem P, Stefansson K. Styrkarsdottir U, et al. Among authors: stefansdottir l. J Clin Endocrinol Metab. 2023 Dec 20:dgad734. doi: 10.1210/clinem/dgad734. Online ahead of print. J Clin Endocrinol Metab. 2023. PMID: 38118020
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.
Stacey SN, Zink F, Halldorsson GH, Stefansdottir L, Gudjonsson SA, Einarsson G, Hjörleifsson G, Eiriksdottir T, Helgadottir A, Björnsdottir G, Thorgeirsson TE, Olafsdottir TA, Jonsdottir I, Gretarsdottir S, Tragante V, Magnusson MK, Jonsson H, Gudmundsson J, Olafsson S, Holm H, Gudbjartsson DF, Sulem P, Helgason A, Thorsteinsdottir U, Tryggvadottir L, Rafnar T, Melsted P, Ulfarsson MÖ, Vidarsson B, Thorleifsson G, Stefansson K. Stacey SN, et al. Among authors: stefansdottir l. Nat Genet. 2023 Dec;55(12):2149-2159. doi: 10.1038/s41588-023-01555-z. Epub 2023 Nov 6. Nat Genet. 2023. PMID: 37932435 Free PMC article.
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
Bjornsdottir G, Chalmer MA, Stefansdottir L, Skuladottir AT, Einarsson G, Andresdottir M, Beyter D, Ferkingstad E, Gretarsdottir S, Halldorsson BV, Halldorsson GH, Helgadottir A, Helgason H, Hjorleifsson Eldjarn G, Jonasdottir A, Jonasdottir A, Jonsdottir I, Knowlton KU, Nadauld LD, Lund SH, Magnusson OT, Melsted P, Moore KHS, Oddsson A, Olason PI, Sigurdsson A, Stefansson OA, Saemundsdottir J, Sveinbjornsson G, Tragante V, Unnsteinsdottir U, Walters GB, Zink F, Rødevand L, Andreassen OA, Igland J, Lie RT, Haavik J, Banasik K, Brunak S, Didriksen M, T Bruun M, Erikstrup C, Kogelman LJA, Nielsen KR, Sørensen E, Pedersen OB, Ullum H; DBDS Genetic Consortium; Masson G, Thorsteinsdottir U, Olesen J, Ludvigsson P, Thorarensen O, Bjornsdottir A, Sigurdardottir GR, Sveinsson OA, Ostrowski SR, Holm H, Gudbjartsson DF, Thorleifsson G, Sulem P, Stefansson H, Thorgeirsson TE, Hansen TF, Stefansson K. Bjornsdottir G, et al. Among authors: stefansdottir l. Nat Genet. 2023 Nov;55(11):1843-1853. doi: 10.1038/s41588-023-01538-0. Epub 2023 Oct 26. Nat Genet. 2023. PMID: 37884687 Free PMC article.
Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage.
Westergaard D, Steinthorsdottir V, Stefansdottir L, Rohde PD, Wu X, Geller F, Tyrmi J, Havulinna AS, Navais PS, Flatley C, Ostrowski SR, Pedersen OB, Erikstrup C, Sørensen E, Mikkelsen C, Brun MT, Jensen BA, Brodersen T, Ullum H; FinnGen; Danish Blood Donor Study Genomic Consortium; Estonian Biobank Research Team; Nordic Collaboration for Womens and Reproductive Health; Magnus P, Andreassen OA, Njolstad PR, Kolte AM, Krebs L, Nyegaard M, Hansen TF, Fenstra B, Daly M, Lindgren CM, Thorleifsson G, Stefansson OA, Sveinbjornsson G, Gudbjartsson DF, Thorsteinsdottir U, Banasik K, Jacobsson B, Laisk T, Laivuori H, Stefansson K, Brunak S, Nielsen HS. Westergaard D, et al. Among authors: stefansdottir l. medRxiv [Preprint]. 2023 Aug 15:2023.08.10.23293932. doi: 10.1101/2023.08.10.23293932. medRxiv. 2023. PMID: 37645979 Free PMC article. Preprint.
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. Among authors: stefansdottir l. Commun Biol. 2023 Jul 10;6(1):703. doi: 10.1038/s42003-023-05079-4. Commun Biol. 2023. PMID: 37430141 Free PMC article.
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: stefansdottir l. 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.
Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.
Styrkarsdottir U, Stefansdottir L, Thorleifsson G, Stefansson OA, Saevarsdottir S, Lund SH, Rafnar T, Hoshijima K, Novak K, Oreiro N, Rego-Perez I, Hansen C, Kazmers N, Kiemeney LA, Blanco FJ, Barker T, Kloppenburg M, Jurynec MJ, Gudbjartsson DF, Jonsson H, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: stefansdottir l. Ann Rheum Dis. 2023 Jun;82(6):873-880. doi: 10.1136/ard-2022-223468. Epub 2023 Mar 17. Ann Rheum Dis. 2023. PMID: 36931692 Free PMC article.
51 results