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Page 1
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: katrinardottir h. Nat Genet. 2021 Dec;53(12):1712-1721. doi: 10.1038/s41588-021-00978-w. Epub 2021 Dec 2. Nat Genet. 2021. PMID: 34857953
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Oskarsson GR, Oddsson A, Magnusson MK, Kristjansson RP, Halldorsson GH, Ferkingstad E, Zink F, Helgadottir A, Ivarsdottir EV, Arnadottir GA, Jensson BO, Katrinardottir H, Sveinbjornsson G, Kristinsdottir AM, Lee AL, Saemundsdottir J, Stefansdottir L, Sigurdsson JK, Davidsson OB, Benonisdottir S, Jonasdottir A, Jonasdottir A, Jonsson S, Gudmundsson RL, Asselbergs FW, Tragante V, Gunnarsson B, Masson G, Thorleifsson G, Rafnar T, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: katrinardottir h. Commun Biol. 2020 Apr 23;3(1):189. doi: 10.1038/s42003-020-0921-5. Commun Biol. 2020. PMID: 32327693 Free PMC article.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Runolfsdottir HL, et al. Among authors: katrinardottir h. Eur J Hum Genet. 2021 Jul;29(7):1061-1070. doi: 10.1038/s41431-020-00805-6. Epub 2021 Mar 11. Eur J Hum Genet. 2021. PMID: 33707627 Free PMC article.
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R, Jonsson AJ, Jensson BO, Sverrisson KO, Arnadottir GA, Skarphedinsdottir SJ, Katrinardottir H, Snaebjornsdottir S, Jonsson H, Eiriksson O, Oskarsson GR, Oddsson A, Jonasdottir A, Jonasdottir A, Sigurdsson GH, Indridason EP, Sigurdsson SB, Bjornsdottir G, Saemundsdottir J, Magnusson OT, Bjornsson HT, Thorsteinsdottir U, Sigurdsson TS, Sulem P, Sigurdsson MI, Stefansson K. Fridriksdottir R, et al. Among authors: katrinardottir h. Eur J Hum Genet. 2021 Dec;29(12):1819-1824. doi: 10.1038/s41431-021-00954-2. Epub 2021 Aug 31. Eur J Hum Genet. 2021. PMID: 34462577 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: katrinardottir h. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
Genetic architecture of band neutrophil fraction in Iceland.
Oskarsson GR, Magnusson MK, Oddsson A, Jensson BO, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Rognvaldsson S, Halldorsson GH, Sveinbjornsson G, Ivarsdottir EV, Stefansdottir L, Ferkingstad E, Norland K, Tragante V, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurjonsdottir S, Petursdottir KO, Davidsson OB, Rafnar T, Holm H, Olafsson I, Onundarson PT, Vidarsson B, Sigurdardottir O, Masson G, Gudbjartsson DF, Jonsdottir I, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: katrinardottir h. Commun Biol. 2022 Jun 1;5(1):525. doi: 10.1038/s42003-022-03462-1. Commun Biol. 2022. PMID: 35650273 Free PMC article.
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: katrinardottir h. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
Publisher Correction: 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: katrinardottir h. Nat Commun. 2023 Jul 3;14(1):3923. doi: 10.1038/s41467-023-39492-4. Nat Commun. 2023. PMID: 37400429 Free PMC article. No abstract available.
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.
Kristjansson RP, Oskarsson GR, Skuladottir A, Oddsson A, Rognvaldsson S, Sveinbjornsson G, Lund SH, Jensson BO, Styrmisdottir EL, Halldorsson GH, Ferkingstad E, Eldjarn GH, Beyter D, Kristmundsdottir S, Juliusson K, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Snorradottir MH, Tragante V, Stefansdottir L, Ivarsdottir EV, Bjornsdottir G, Halldorsson BV, Thorleifsson G, Ludviksson BR, Onundarson PT, Saevarsdottir S, Melsted P, Norddahl GL, Bjornsdottir US, Olafsdottir T, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: katrinardottir h. Commun Biol. 2023 Jul 10;6(1):703. doi: 10.1038/s42003-023-05079-4. Commun Biol. 2023. PMID: 37430141 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: katrinardottir h. 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.
14 results