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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: halldorsson gh. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: halldorsson gh. Commun Biol. 2024 Dec 4;7(1):1616. doi: 10.1038/s42003-024-07298-9. Commun Biol. 2024. PMID: 39633146 Free PMC article.
Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland.
Norddahl GL, Melsted P, Gunnarsdottir K, Halldorsson GH, Olafsdottir TA, Gylfason A, Kristjansson M, Magnusson OT, Sulem P, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Norddahl GL, et al. Among authors: halldorsson gh. Nat Commun. 2022 Sep 28;13(1):5701. doi: 10.1038/s41467-022-33076-4. Nat Commun. 2022. PMID: 36171188 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: halldorsson bv, halldorsson gh. N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792. N Engl J Med. 2023. PMID: 37937776
Publisher Correction: Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: halldorsson gh. Commun Biol. 2024 Dec 18;7(1):1640. doi: 10.1038/s42003-024-07379-9. Commun Biol. 2024. PMID: 39695339 Free PMC article. No abstract available.
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: halldorsson bv, halldorsson gh. 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.
Diversity in non-repetitive human sequences not found in the reference genome.
Kehr B, Helgadottir A, Melsted P, Jonsson H, Helgason H, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gylfason A, Halldorsson GH, Kristmundsdottir S, Thorgeirsson G, Olafsson I, Holm H, Thorsteinsdottir U, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kehr B, et al. Among authors: halldorsson bv, halldorsson gh. Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250455
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. Hum Mol Genet. 2017 Jun 15;26(12):2364-2376. doi: 10.1093/hmg/ddx123. Hum Mol Genet. 2017. PMID: 28398513
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: halldorsson gh. Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374069
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR.
Bjornsson E, Gunnarsdottir K, Halldorsson GH, Sigurdsson A, Arnadottir GA, Jonsson H, Olafsdottir EF, Niehus S, Kehr B, Sveinbjörnsson G, Gudmundsdottir S, Helgadottir A, Andersen K, Thorleifsson G, Eyjolfsson GI, Olafsson I, Sigurdardottir O, Saemundsdottir J, Jonsdottir I, Magnusson OT, Masson G, Stefansson H, Gudbjartsson DF, Thorgeirsson G, Holm H, Halldorsson BV, Melsted P, Norddahl GL, Sulem P, Thorsteinsdottir U, Stefansson K. Bjornsson E, et al. Among authors: halldorsson bv, halldorsson gh. Circ Genom Precis Med. 2021 Feb;14(1):e003029. doi: 10.1161/CIRCGEN.120.003029. Epub 2020 Dec 14. Circ Genom Precis Med. 2021. PMID: 33315477
80 results