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Page 1
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.
Nicastro M, Vermeer AMC, Postema PG, Tadros R, Bowling FZ, Aegisdottir HM, Tragante V, Mach L, Postma AV, Lodder EM, van Duijvenboden K, Zwart R, Beekman L, Wu L, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santomel JL, de Una D, Monserrat L, Miranda AMA, Kanemaru K, Cranley J, van Zeggeren IE, Aronica EMA, Ripolone M, Zanotti S, Sveinbjornsson G, Ivarsdottir EV, Hólm H, Guðbjartsson DF, Skúladóttir ÁT, Stefánsson K, Nadauld L, Knowlton KU, Ostrowski SR, Sørensen E, Vesterager Pedersen OB, Ghouse J, Rand S, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tøring PM, Brusgaard K, Juul TM, Saaby L, Winkel BG, Mogensen J, Fortunato F, Comi GP, Ronchi D, van Tintelen JP, Noseda M, Airola MV, Christiaans I, Wilde AAM, Wilders R, Clur SA, Verkerk AO, Bezzina CR, Lahrouchi N. Nicastro M, et al. Among authors: skuladottir at. medRxiv [Preprint]. 2024 Jul 5:2024.07.04.24309755. doi: 10.1101/2024.07.04.24309755. medRxiv. 2024. PMID: 39006410 Free PMC article. Preprint.
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.
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease.
Skuladottir AT, Tragante V, Sveinbjornsson G, Helgason H, Sturluson A, Bjornsdottir A, Jonsson P, Palmadottir V, Sveinsson OA, Jensson BO, Gudjonsson SA, Ivarsdottir EV, Gisladottir RS, Gunnarsson AF, Walters GB, Jonsdottir GA, Thorgeirsson TE, Bjornsdottir G, Holm H, Gudbjartsson DF, Sulem P, Stefansson H, Stefansson K. Skuladottir AT, et al. NPJ Parkinsons Dis. 2024 Aug 15;10(1):140. doi: 10.1038/s41531-024-00752-9. NPJ Parkinsons Dis. 2024. PMID: 39147844 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. 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 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.
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. 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.
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. Commun Biol. 2023 Jul 10;6(1):703. doi: 10.1038/s42003-023-05079-4. Commun Biol. 2023. PMID: 37430141 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: skuladottir at. 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.
18 results