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2003 1
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Page 1
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.
Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease.
Stefansson H, Walters GB, Sveinbjornsson G, Tragante V, Einarsson G, Helgason H, Sigurðsson A, Beyter D, Snaebjarnarson AS, Ivarsdottir EV, Thorleifsson G, Halldorsson BV, Norddahl G, Styrkarsdottir U, Sturluson A, Holm H, Helgason A, Moore K, Eggertsson HP, Oddsson AH, Jonsdottir GA, Gunnarsson AF, Bjornsdottir G, Gisladottir RS, Thorgeirsson TE, Skuladottir A, Gudbjartsson DF, Sulem P, Jonsson P, Thordardottir S, Snaedal J, Eyjolfsdottir H, Creese B, Ballard C, Corbett A, Vasconcelos Da Silva M, Aarsland D, Andreassen OA; DemGen Study Group; Selbæk G, Djurovic S, Stordal E, Fladby T, Haavik J, Igland J, Giil LM, Eriksson S, Hallmans G, Lövheim H, Lopatko Lindman K, Trupp M, Forsgren L, Werge T, Banasik K, Brunak S, Ullum H, Frikke-Schmidt R, Ostrowski SR; DBDS Genomic Consortium; Didriksen M, Sørensen E, Simonsen AH, Nielsen JE, Waldemar G, Pedersen OB, Erikstrup C, Knowlton KU, Nadauld LD, Stefansson K; DemGen Study Group and DBDS Genomic Consortium. Stefansson H, et al. Among authors: skuladottir a. N Engl J Med. 2024 Jun 20;390(23):2217-2219. doi: 10.1056/NEJMc2314334. N Engl J Med. 2024. PMID: 38899702 No abstract available.
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. Commun Biol. 2024 Apr 26;7(1):504. doi: 10.1038/s42003-024-06207-4. Commun Biol. 2024. PMID: 38671141 Free PMC article.
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 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.
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.
Braun A, Shekhar S, Levey DF, Straub P, Kraft J, Panagiotaropoulou GM, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas AG, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir AT, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein MB, Fontanillas P; Estonian Biobank Research Team; 23andMe Research Team; Kaprio J, Gelernter J, Davis LK, Paschou P, Tannemaat MR, Verschuuren JJGM, Kuhlenbäumer G, Gregersen PK, Huijbers MG, Stascheit F, Meisel A, Ripke S. Braun A, et al. Among authors: skuladottir at. Nat Commun. 2024 Nov 13;15(1):9839. doi: 10.1038/s41467-024-53595-6. Nat Commun. 2024. PMID: 39537604 Free PMC 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.
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.
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.
24 results