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Page 1
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: oddsson a. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: oddsson a. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: oddsson a. BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8. BMC Med Genet. 2017. PMID: 28965491 Free PMC article.
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G, Benediktsdottir BD, Sigfusson G, Norland K, Davidsson OB, Thorolfsdottir RB, Tragante V, Arnadottir GA, Jensson BO, Katrinardottir H, Fridriksdottir R, Gudmundsdottir H, Aegisdottir HM, Fridriksson B, Thorgeirsson G, Magnusson V, Oddsson A, Sulem P, Gudbjartsson DF, Holm H, Arnar DO, Stefansson K. Sveinbjornsson G, et al. Among authors: oddsson a. J Am Heart Assoc. 2023 Jul 18;12(14):e029845. doi: 10.1161/JAHA.123.029845. Epub 2023 Jul 14. J Am Heart Assoc. 2023. PMID: 37449562 Free PMC article.
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Sulem P. Jensson BO, et al. Among authors: oddsson a. N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792. N Engl J Med. 2023. PMID: 37937776
The correlation between CpG methylation and gene expression is driven by sequence variants.
Stefansson OA, Sigurpalsdottir BD, Rognvaldsson S, Halldorsson GH, Juliusson K, Sveinbjornsson G, Gunnarsson B, Beyter D, Jonsson H, Gudjonsson SA, Olafsdottir TA, Saevarsdottir S, Magnusson MK, Lund SH, Tragante V, Oddsson A, Hardarson MT, Eggertsson HP, Gudmundsson RL, Sverrisson S, Frigge ML, Zink F, Holm H, Stefansson H, Rafnar T, Jonsdottir I, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Thorsteinsdottir U, Stefansson K. Stefansson OA, et al. Among authors: oddsson a. Nat Genet. 2024 Aug;56(8):1624-1631. doi: 10.1038/s41588-024-01851-2. Epub 2024 Jul 24. Nat Genet. 2024. PMID: 39048797 Free PMC article.
Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjörnsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K. Oddsson A, et al. Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975. Nat Commun. 2015. PMID: 26272126 Free PMC article.
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Bjornsson E, Helgason H, Halldorsson G, Helgadottir A, Gylfason A, Kehr B, Jonasdottir A, Jonasdottir A, Sigurdsson A, Oddsson A, Thorleifsson G, Magnusson OT, Gretarsdottir S, Zink F, Kristjansson RP, Asgeirsdottir M, Swinkels DW, Kiemeney LA, Eyjolfsson GI, Sigurdardottir O, Masson G, Olafsson I, Thorgeirsson G, Holm H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Bjornsson E, et al. Among authors: oddsson a. Hum Mol Genet. 2017 Jun 15;26(12):2364-2376. doi: 10.1093/hmg/ddx123. Hum Mol Genet. 2017. PMID: 28398513
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, Benonisdottir S, Jonsson H, Helgason A, Saemundsdottir J, Magnusson OT, Masson G, Thorisson GA, Jonasdottir A, Jonasdottir A, Sigurdsson A, Jonsdottir I, Petursdottir V, Kristinsson JR, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Gudmundsson G, Stefansson K. Jensson BO, et al. Among authors: oddsson a. BMC Med Genet. 2017 Nov 14;18(1):129. doi: 10.1186/s12881-017-0490-8. BMC Med Genet. 2017. PMID: 29137621 Free PMC article.
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: oddsson a. Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374069
82 results