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Page 1
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: arnadottir ga. 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.
A rare missense variant in NR1H4 associates with lower cholesterol levels.
Deaton AM, Sulem P, Nioi P, Benonisdottir S, Ward LD, Davidsson OB, Lao S, Helgadottir A, Fan F, Jensson BO, Norddahl GL, Jonasdottir A, Jonasdottir A, Sigurdsson A, Kristjansson RP, Oddsson A, Arnadottir GA, Jonsson H, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Bjornsson ES, Olafsson S, Steingrimsdottir T, Rafnar T, Thorgeirsson G, Masson G, Thorleifsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K. Deaton AM, et al. Among authors: arnadottir ga. Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018. Commun Biol. 2018. PMID: 30271901 Free PMC article.
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E, Oddsson A, Gretarsdottir S, Benonisdottir S, Thorleifsson G, Deaton AM, Jonsson S, Stefansson OA, Norddahl GL, Zink F, Arnadottir GA, Gunnarsson B, Halldorsson GH, Helgadottir A, Jensson BO, Kristjansson RP, Sveinbjornsson G, Sverrisson DA, Masson G, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Holm H, Jonsdottir I, Olafsson S, Steingrimsdottir T, Rafnar T, Bjornsson ES, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Ferkingstad E, et al. Among authors: arnadottir ga. Nat Commun. 2018 Nov 30;9(1):5101. doi: 10.1038/s41467-018-07460-y. Nat Commun. 2018. PMID: 30504769 Free PMC article.
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
Kristjansson RP, Benonisdottir S, Davidsson OB, Oddsson A, Tragante V, Sigurdsson JK, Stefansdottir L, Jonsson S, Jensson BO, Arthur JG, Arnadottir GA, Sulem G, Halldorsson BV, Gunnarsson B, Halldorsson GH, Stefansson OA, Oskarsson GR, Deaton AM, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Onundarson PT, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Olafsdottir TA, Rafnar T, Masson G, Zink F, Bjornsdottir G, Magnusson OT, Bjornsdottir US, Thorleifsson G, Norddahl GL, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: arnadottir ga. Nat Genet. 2019 Feb;51(2):267-276. doi: 10.1038/s41588-018-0314-6. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643255
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
Ivarsdottir EV, Benonisdottir S, Thorleifsson G, Sulem P, Oddsson A, Styrkarsdottir U, Kristmundsdottir S, Arnadottir GA, Thorgeirsson G, Jonsdottir I, Zoega GM, Thorsteinsdottir U, Gudbjartsson DF, Jonasson F, Holm H, Stefansson K. Ivarsdottir EV, et al. Among authors: arnadottir ga. Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9. Nat Commun. 2019. PMID: 30894546 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: arnadottir ga. Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. Nat Commun. 2019. PMID: 30992453 Free PMC article.
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
Ivarsdottir EV, Holm H, Benonisdottir S, Olafsdottir T, Sveinbjornsson G, Thorleifsson G, Eggertsson HP, Halldorsson GH, Hjorleifsson KE, Melsted P, Gylfason A, Arnadottir GA, Oddsson A, Jensson BO, Jonasdottir A, Jonasdottir A, Juliusdottir T, Stefansdottir L, Tragante V, Halldorsson BV, Petersen H, Thorgeirsson G, Thorsteinsdottir U, Sulem P, Hinriksdottir I, Jonsdottir I, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: arnadottir ga. Commun Biol. 2021 Jun 9;4(1):706. doi: 10.1038/s42003-021-02224-9. Commun Biol. 2021. PMID: 34108613 Free PMC article.
Large-scale integration of the plasma proteome with genetics and disease.
Ferkingstad E, Sulem P, Atlason BA, Sveinbjornsson G, Magnusson MI, Styrmisdottir EL, Gunnarsdottir K, Helgason A, Oddsson A, Halldorsson BV, Jensson BO, Zink F, Halldorsson GH, Masson G, Arnadottir GA, Katrinardottir H, Juliusson K, Magnusson MK, Magnusson OT, Fridriksdottir R, Saevarsdottir S, Gudjonsson SA, Stacey SN, Rognvaldsson S, Eiriksdottir T, Olafsdottir TA, Steinthorsdottir V, Tragante V, Ulfarsson MO, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Melsted P, Saemundsdottir J, Norddahl GL, Lund SH, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Ferkingstad E, et al. Among authors: arnadottir ga. Nat Genet. 2021 Dec;53(12):1712-1721. doi: 10.1038/s41588-021-00978-w. Epub 2021 Dec 2. Nat Genet. 2021. PMID: 34857953
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: arnadottir ga. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
Sequence variants affecting the genome-wide rate of germline microsatellite mutations.
Kristmundsdottir S, Jonsson H, Hardarson MT, Palsson G, Beyter D, Eggertsson HP, Gylfason A, Sveinbjornsson G, Holley G, Stefansson OA, Halldorsson GH, Olafsson S, Arnadottir GA, Olason PI, Eiriksson O, Masson G, Thorsteinsdottir U, Rafnar T, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kristmundsdottir S, et al. Among authors: arnadottir ga. Nat Commun. 2023 Jun 29;14(1):3855. doi: 10.1038/s41467-023-39547-6. Nat Commun. 2023. PMID: 37386006 Free PMC article.
43 results