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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: skuladottir a. 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.
MAP1B mutations cause intellectual disability and extensive white matter deficit.
Walters GB, Gustafsson O, Sveinbjornsson G, Eiriksdottir VK, Agustsdottir AB, Jonsdottir GA, Steinberg S, Gunnarsson AF, Magnusson MI, Unnsteinsdottir U, Lee AL, Jonasdottir A, Sigurdsson A, Jonasdottir A, Skuladottir A, Jonsson L, Nawaz MS, Sulem P, Frigge M, Ingason A, Love A, Norddhal GL, Zervas M, Gudbjartsson DF, Ulfarsson MO, Saemundsen E, Stefansson H, Stefansson K. Walters GB, et al. Among authors: skuladottir a. Nat Commun. 2018 Aug 27;9(1):3456. doi: 10.1038/s41467-018-05595-6. Nat Commun. 2018. PMID: 30150678 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: skuladottir a. Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. Nat Commun. 2019. PMID: 30992453 Free PMC article.
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
Gisladottir RS, Ivarsdottir EV, Helgason A, Jonsson L, Hannesdottir NK, Rutsdottir G, Arnadottir GA, Skuladottir A, Jonsson BA, Norddahl GL, Ulfarsson MO, Helgason H, Halldorsson BV, Nawaz MS, Tragante V, Sveinbjornsson G, Thorgeirsson T, Oddsson A, Kristjansson RP, Bjornsdottir G, Thorgeirsson G, Jonsdottir I, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Stefansson H, Sulem P, Stefansson K. Gisladottir RS, et al. Among authors: skuladottir a. Curr Biol. 2020 Dec 7;30(23):4643-4653.e3. doi: 10.1016/j.cub.2020.09.012. Epub 2020 Oct 8. Curr Biol. 2020. PMID: 33035477 Free article.
A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.
Skuladottir AT, Bjornsdottir G, Thorleifsson G, Walters GB, Nawaz MS, Moore KHS, Olason PI, Thorgeirsson TE, Sigurpalsdottir B, Sveinbjornsson G, Eggertsson HP, Magnusson SH, Oddsson A, Bjornsdottir A, Vikingsson A, Sveinsson OA, Hrafnsdottir MG, Sigurdardottir GR, Halldorsson BV, Hansen TF, Paarup H, Erikstrup C, Nielsen K, Klokker M, Bruun MT, Sorensen E, Banasik K, Burgdorf KS, Pedersen OB, Ullum H, Jonsdottir I, Stefansson H, Stefansson K. Skuladottir AT, et al. Sci Rep. 2021 Feb 18;11(1):4188. doi: 10.1038/s41598-021-82736-w. Sci Rep. 2021. PMID: 33602968 Free PMC article.
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.
Skuladottir AT, Bjornsdottir G, Nawaz MS, Petersen H, Rognvaldsson S, Moore KHS, Olafsson PI, Magnusson SH, Bjornsdottir A, Sveinsson OA, Sigurdardottir GR, Saevarsdottir S, Ivarsdottir EV, Stefansdottir L, Gunnarsson B, Muhlestein JB, Knowlton KU, Jones DA, Nadauld LD, Hartmann AM, Rujescu D, Strupp M, Walters GB, Thorgeirsson TE, Jonsdottir I, Holm H, Thorleifsson G, Gudbjartsson DF, Sulem P, Stefansson H, Stefansson K. Skuladottir AT, et al. Commun Biol. 2021 Oct 7;4(1):1148. doi: 10.1038/s42003-021-02673-2. Commun Biol. 2021. PMID: 34620984 Free PMC article.
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium; Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K. Bjornsdottir G, et al. Among authors: skuladottir at. Nat Commun. 2022 Feb 2;13(1):634. doi: 10.1038/s41467-022-28167-1. Nat Commun. 2022. PMID: 35110524 Free PMC article.
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.
Skuladottir AT, Bjornsdottir G, Ferkingstad E, Einarsson G, Stefansdottir L, Nawaz MS, Oddsson A, Olafsdottir TA, Saevarsdottir S, Walters GB, Magnusson SH, Bjornsdottir A, Sveinsson OA, Vikingsson A, Hansen TF, Jacobsen RL, Erikstrup C, Schwinn M, Brunak S, Banasik K, Ostrowski SR, Troelsen A, Henkel C, Pedersen OB; DBDS Genetic Consortium; Jonsdottir I, Gudbjartsson DF, Sulem P, Thorgeirsson TE, Stefansson H, Stefansson K. Skuladottir AT, et al. Nat Commun. 2022 Mar 24;13(1):1598. doi: 10.1038/s41467-022-29133-7. Nat Commun. 2022. PMID: 35332129 Free PMC article.
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium; Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K. Bjornsdottir G, et al. Among authors: skuladottir at. Nat Commun. 2022 Apr 27;13(1):2419. doi: 10.1038/s41467-022-30129-6. Nat Commun. 2022. PMID: 35477715 Free PMC article. No abstract available.
24 results