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Page 1
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: jonsson h. 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.
The inheritance of hip osteoarthritis in Iceland.
Ingvarsson T, Stefánsson SE, Hallgrímsdóttir IB, Frigge ML, Jónsson H Jr, Gulcher J, Jónsson H, Ragnarsson JI, Lohmander LS, Stefánsson K. Ingvarsson T, et al. Among authors: jonsson h, jonsson h jr. Arthritis Rheum. 2000 Dec;43(12):2785-92. doi: 10.1002/1529-0131(200012)43:12<2785::AID-ANR19>3.0.CO;2-I. Arthritis Rheum. 2000. PMID: 11145037 Free 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: jonsson h. Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250455
Whole genome characterization of sequence diversity of 15,220 Icelanders.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Besenbacher S, Frigge ML, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Sci Data. 2017 Sep 21;4:170115. doi: 10.1038/sdata.2017.115. Sci Data. 2017. PMID: 28933420 Free PMC article.
Graphtyper enables population-scale genotyping using pangenome graphs.
Eggertsson HP, Jonsson H, Kristmundsdottir S, Hjartarson E, Kehr B, Masson G, Zink F, Hjorleifsson KE, Jonasdottir A, Jonasdottir A, Jonsdottir I, Gudbjartsson DF, Melsted P, Stefansson K, Halldorsson BV. Eggertsson HP, et al. Among authors: jonsson h. Nat Genet. 2017 Nov;49(11):1654-1660. doi: 10.1038/ng.3964. Epub 2017 Sep 25. Nat Genet. 2017. PMID: 28945251
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
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: jonsson h. 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.
Reconstructing an African haploid genome from the 18th century.
Jagadeesan A, Gunnarsdóttir ED, Ebenesersdóttir SS, Guðmundsdóttir VB, Thordardottir EL, Einarsdóttir MS, Jónsson H, Dugoujon JM, Fortes-Lima C, Migot-Nabias F, Massougbodji A, Bellis G, Pereira L, Másson G, Kong A, Stefánsson K, Helgason A. Jagadeesan A, et al. Among authors: jonsson h. Nat Genet. 2018 Feb;50(2):199-205. doi: 10.1038/s41588-017-0031-6. Epub 2018 Jan 15. Nat Genet. 2018. PMID: 29335549
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: jonsson h. Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018. Commun Biol. 2018. PMID: 30271901 Free PMC article.
Multiple transmissions of de novo mutations in families.
Jónsson H, Sulem P, Arnadottir GA, Pálsson G, Eggertsson HP, Kristmundsdottir S, Zink F, Kehr B, Hjorleifsson KE, Jensson BÖ, Jonsdottir I, Marelsson SE, Gudjonsson SA, Gylfason A, Jonasdottir A, Jonasdottir A, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nat Genet. 2018 Dec;50(12):1674-1680. doi: 10.1038/s41588-018-0259-9. Epub 2018 Nov 5. Nat Genet. 2018. PMID: 30397338
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