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  • Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

    Published in:
    2023
    By:
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Sveinbjornsson, Gardar;
    • Arnadottir, Gudny A.;
    • Steinthorsdottir, Valgerdur;
    • Halldorsson, Gisli H.;
    • Atlason, Bjarni A.;
    • Oskarsson, Gudjon R.;
    • Helgason, Hannes;
    • Nielsen, Henriette Svarre;
    • Westergaard, David;
    • Karjalainen, Juha M.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Jensson, Brynjar O.;
    • Tragante, Vinicius;
    • Ferkingstad, Egil;
    • Jonsson, Hakon;
    • Gudjonsson, Sigurjon A.;
    • Beyter, Doruk
    Publication type:
    Correction Notice

  • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38951-2
    By:
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Sveinbjornsson, Gardar;
    • Arnadottir, Gudny A.;
    • Steinthorsdottir, Valgerdur;
    • Halldorsson, Gisli H.;
    • Atlason, Bjarni A.;
    • Oskarsson, Gudjon R.;
    • Helgason, Hannes;
    • Nielsen, Henriette Svarre;
    • Westergaard, David;
    • Karjalainen, Juha M.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Jensson, Brynjar O.;
    • Tragante, Vinicius;
    • Ferkingstad, Egil;
    • Jonsson, Hakon;
    • Gudjonsson, Sigurjon A.;
    • Beyter, Doruk
    Publication type:
    Article

  • Epigenetic and genetic components of height regulation.

    Published in:
    Nature Communications, 2016, v. 7, n. 11, p. 13490, doi. 10.1038/ncomms13490
    By:
    • Benonisdottir, Stefania;
    • Oddsson, Asmundur;
    • Helgason, Agnar;
    • Kristjansson, Ragnar P.;
    • Sveinbjornsson, Gardar;
    • Oskarsdottir, Arna;
    • Thorleifsson, Gudmar;
    • Davidsson, Olafur B.;
    • Arnadottir, Gudny A.;
    • Sulem, Gerald;
    • Jensson, Brynjar O.;
    • Holm, Hilma;
    • Alexandersson, Kristjan F.;
    • Tryggvadottir, Laufey;
    • Walters, G. Bragi;
    • Gudjonsson, Sigurjon A.;
    • Ward, Lucas D.;
    • Sigurdsson, Jon K.;
    • Iordache, Paul D.;
    • Frigge, Michael L.
    Publication type:
    Article

  • Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

    Published in:
    Nature Communications, 2016, v. 7, n. 2, p. 10572, doi. 10.1038/ncomms10572
    By:
    • Kristjansson, Ragnar P.;
    • Oddsson, Asmundur;
    • Helgason, Hannes;
    • Sveinbjornsson, Gardar;
    • Arnadottir, Gudny A.;
    • Jensson, Brynjar O.;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Bragi Walters, G.;
    • Sulem, Gerald;
    • Oskarsdottir, Arna;
    • Benonisdottir, Stefania;
    • Davidsson, Olafur B.;
    • Masson, Gisli;
    • Th Magnusson, Olafur;
    • Holm, Hilma;
    • Sigurdardottir, Olof;
    • Jonsdottir, Ingileif;
    • Eyjolfsson, Gudmundur I.;
    • Olafsson, Isleifur
    Publication type:
    Article

  • COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

    Published in:
    2017
    By:
    • Jensson, Brynjar O.;
    • Hansdottir, Sif;
    • Arnadottir, Gudny A.;
    • Sulem, Gerald;
    • Kristjansson, Ragnar P.;
    • Oddsson, Asmundur;
    • Benonisdottir, Stefania;
    • Jonsson, Hakon;
    • Helgason, Agnar;
    • Saemundsdottir, Jona;
    • Magnusson, Olafur T.;
    • Masson, Gisli;
    • Thorisson, Gudmundur A.;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Jonsdottir, Ingileif;
    • Petursdottir, Vigdis;
    • Kristinsson, Jon R.;
    • Gudbjartsson, Daniel F.
    Publication type:
    Case Study

  • Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

    Published in:
    2017
    By:
    • Arnadottir, Gudny A.;
    • Jensson, Brynjar O.;
    • Marelsson, Sigurdur E.;
    • Sulem, Gerald;
    • Oddsson, Asmundur;
    • Kristjansson, Ragnar P.;
    • Benonisdottir, Stefania;
    • Gudjonsson, Sigurjon A.;
    • Masson, Gisli;
    • Thorisson, Gudmundur A.;
    • Saemundsdottir, Jona;
    • Magnusson, Olafur Th.;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Gudbjartsson, Daniel F.;
    • Thorsteinsdottir, Unnur;
    • Arngrimsson, Reynir;
    • Sulem, Patrick;
    • Stefansson, Kari
    Publication type:
    Case Study

  • A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

    Published in:
    Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0053-3
    By:
    • Oskarsson, Gudjon R.;
    • Kristjansson, Ragnar P.;
    • Lee, Amy L.;
    • Sveinbjornsson, Gardar;
    • Magnusson, Magnus K.;
    • Ivarsdottir, Erna V.;
    • Benonisdottir, Stefania;
    • Oddsson, Asmundur;
    • Davidsson, Olafur B.;
    • Saemundsdottir, Jona;
    • Halldorsson, Gisli H.;
    • Arthur, Joseph;
    • Arnadottir, Gudny A.;
    • Masson, Gisli;
    • Jensson, Brynjar O.;
    • Holm, Hilma;
    • Olafsson, Isleifur;
    • Onundarson, Pall T.;
    • Gudbjartsson, Daniel F.;
    • Norddahl, Gudmundur L.
    Publication type:
    Article

  • A rare missense variant in NR1H4 associates with lower cholesterol levels.

    Published in:
    Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0015-9
    By:
    • Deaton, Aimee M.;
    • Sulem, Patrick;
    • Nioi, Paul;
    • Benonisdottir, Stefania;
    • Ward, Lucas D.;
    • Davidsson, Olafur B.;
    • Lao, Socheata;
    • Helgadottir, Anna;
    • Fan, Fan;
    • Jensson, Brynjar O.;
    • Norddahl, Gudmundur L.;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Kristjansson, Ragnar P.;
    • Oddsson, Asmundur;
    • Arnadottir, Gudny A.;
    • Jonsson, Hakon;
    • Olafsson, Isleifur;
    • Eyjolfsson, Gudmundur I.
    Publication type:
    Article

  • Genetic architecture of band neutrophil fraction in Iceland.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03462-1
    By:
    • Oskarsson, Gudjon R.;
    • Magnusson, Magnus K.;
    • Oddsson, Asmundur;
    • Jensson, Brynjar O.;
    • Fridriksdottir, Run;
    • Arnadottir, Gudny A.;
    • Katrinardottir, Hildigunnur;
    • Rognvaldsson, Solvi;
    • Halldorsson, Gisli H.;
    • Sveinbjornsson, Gardar;
    • Ivarsdottir, Erna V.;
    • Stefansdottir, Lilja;
    • Ferkingstad, Egil;
    • Norland, Kristjan;
    • Tragante, Vinicius;
    • Saemundsdottir, Jona;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Sigurjonsdottir, Svanhvit;
    • Petursdottir, Karen O.
    Publication type:
    Article

  • Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07460-y
    By:
    • Ferkingstad, Egil;
    • Oddsson, Asmundur;
    • Gretarsdottir, Solveig;
    • Benonisdottir, Stefania;
    • Thorleifsson, Gudmar;
    • Deaton, Aimee M.;
    • Jonsson, Stefan;
    • Stefansson, Olafur A.;
    • Norddahl, Gudmundur L.;
    • Zink, Florian;
    • Arnadottir, Gudny A.;
    • Gunnarsson, Bjarni;
    • Halldorsson, Gisli H.;
    • Helgadottir, Anna;
    • Jensson, Brynjar O.;
    • Kristjansson, Ragnar P.;
    • Sveinbjornsson, Gardar;
    • Sverrisson, David A.;
    • Masson, Gisli;
    • Olafsson, Isleifur
    Publication type:
    Article

  • A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

    Published in:
    Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-06964-x
    By:
    • Arnadottir, Gudny A.;
    • Norddahl, Gudmundur L.;
    • Gudmundsdottir, Steinunn;
    • Agustsdottir, Arna B.;
    • Sigurdsson, Snaevar;
    • Jensson, Brynjar O.;
    • Bjarnadottir, Kristbjorg;
    • Theodors, Fannar;
    • Benonisdottir, Stefania;
    • Ivarsdottir, Erna V.;
    • Oddsson, Asmundur;
    • Kristjansson, Ragnar P.;
    • Sulem, Gerald;
    • Alexandersson, Kristjan F.;
    • Juliusdottir, Thorhildur;
    • Gudmundsson, Kjartan R.;
    • Saemundsdottir, Jona;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir
    Publication type:
    Article

  • Molecular benchmarks of a SARS-CoV-2 epidemic.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23883-6
    By:
    • Jonsson, Hakon;
    • Magnusson, Olafur T.;
    • Melsted, Pall;
    • Berglund, Jonas;
    • Agustsdottir, Arna B.;
    • Eiríksdottir, Berglind;
    • Fridriksdottir, Run;
    • Garðarsdottir, Elisabet Eir;
    • Georgsson, Gudmundur;
    • Gretarsdottir, Olafia S.;
    • Guðmundsson, Kjartan R.;
    • Gunnarsdottir, Thora Rosa;
    • Eggertsson, Hannes;
    • Gylfason, Arnaldur;
    • Holm, Hilma;
    • Jensson, Brynjar O.;
    • Jonasdottir, Aslaug;
    • Jonsson, Frosti;
    • Josefsdottir, Kamilla S.;
    • Thordardottir, Marianna
    Publication type:
    Article

  • Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28330-8
    By:
    • Arnadottir, Gudny A.;
    • Oddsson, Asmundur;
    • Jensson, Brynjar O.;
    • Gisladottir, Svanborg;
    • Simon, Mariella T.;
    • Arnthorsson, Asgeir O.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Ivarsdottir, Erna V.;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Barrick, Rebekah;
    • Saemundsdottir, Jona;
    • le Roux, Louise;
    • Oskarsson, Gudjon R.;
    • Asmundsson, Jurate;
    • Steffensen, Thora;
    • Gudmundsson, Kjartan R.;
    • Ludvigsson, Petur;
    • Jonsson, Jon J.
    Publication type:
    Article

  • The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02224-9
    By:
    • Ivarsdottir, Erna V.;
    • Holm, Hilma;
    • Benonisdottir, Stefania;
    • Olafsdottir, Thorhildur;
    • Sveinbjornsson, Gardar;
    • Thorleifsson, Gudmar;
    • Eggertsson, Hannes P.;
    • Halldorsson, Gisli H.;
    • Hjorleifsson, Kristjan E.;
    • Melsted, Pall;
    • Gylfason, Arnaldur;
    • Arnadottir, Gudny A.;
    • Oddsson, Asmundur;
    • Jensson, Brynjar O.;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Juliusdottir, Thorhildur;
    • Stefansdottir, Lilja;
    • Tragante, Vinicius;
    • Halldorsson, Bjarni V.
    Publication type:
    Article

  • Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.

    Published in:
    Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-0921-5
    By:
    • Oskarsson, Gudjon R.;
    • Oddsson, Asmundur;
    • Magnusson, Magnus K.;
    • Kristjansson, Ragnar P.;
    • Halldorsson, Gisli H.;
    • Ferkingstad, Egil;
    • Zink, Florian;
    • Helgadottir, Anna;
    • Ivarsdottir, Erna V.;
    • Arnadottir, Gudny A.;
    • Jensson, Brynjar O.;
    • Katrinardottir, Hildigunnur;
    • Sveinbjornsson, Gardar;
    • Kristinsdottir, Anna M.;
    • Lee, Amy L.;
    • Saemundsdottir, Jona;
    • Stefansdottir, Lilja;
    • Sigurdsson, Jon K.;
    • Davidsson, Olafur B.;
    • Benonisdottir, Stefania
    Publication type:
    Article

  • Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00752-9
    By:
    • Skuladottir, Astros Th.;
    • Tragante, Vinicius;
    • Sveinbjornsson, Gardar;
    • Helgason, Hannes;
    • Sturluson, Arni;
    • Bjornsdottir, Anna;
    • Jonsson, Palmi;
    • Palmadottir, Vala;
    • Sveinsson, Olafur A.;
    • Jensson, Brynjar O.;
    • Gudjonsson, Sigurjon A.;
    • Ivarsdottir, Erna V.;
    • Gisladottir, Rosa S.;
    • Gunnarsson, Arni F.;
    • Walters, G. Bragi;
    • Jonsdottir, Gudrun A.;
    • Thorgeirsson, Thorgeir E.;
    • Bjornsdottir, Gyda;
    • Holm, Hilma;
    • Gudbjartsson, Daniel F.
    Publication type:
    Article

  • Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

    Published in:
    Journal of the American Heart Association, 2023, v. 12, n. 14, p. 1, doi. 10.1161/JAHA.123.029845
    By:
    • Sveinbjornsson, Gardar;
    • Benediktsdottir, Bara D.;
    • Sigfusson, Gunnlaugur;
    • Norland, Kristjan;
    • Davidsson, Olafur B.;
    • Thorolfsdottir, Rosa B.;
    • Tragante, Vinicius;
    • Arnadottir, Gudny A.;
    • Jensson, Brynjar O.;
    • Katrinardottir, Hildigunnur;
    • Fridriksdottir, Run;
    • Gudmundsdottir, Hallbera;
    • Aegisdottir, Hildur M.;
    • Fridriksson, Brynjar;
    • Thorgeirsson, Gudmundur;
    • Magnusson, Vidar;
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Holm, Hilma
    Publication type:
    Article

  • Sequence variants associating with urinary biomarkers.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 7, p. 1199, doi. 10.1093/hmg/ddy409
    By:
    • Benonisdottir, Stefania;
    • Kristjansson, Ragnar P;
    • Oddsson, Asmundur;
    • Steinthorsdottir, Valgerdur;
    • Mikaelsdottir, Evgenia;
    • Kehr, Birte;
    • Jensson, Brynjar O;
    • Arnadottir, Gudny A;
    • Sulem, Gerald;
    • Sveinbjornsson, Gardar;
    • Kristmundsdottir, Snaedis;
    • Ivarsdottir, Erna V;
    • Tragante, Vinicius;
    • Gunnarsson, Bjarni;
    • Runolfsdottir, Hrafnhildur Linnet;
    • Arthur, Joseph G;
    • Deaton, Aimee M;
    • Eyjolfsson, Gudmundur I;
    • Davidsson, Olafur B;
    • Asselbergs, Folkert W
    Publication type:
    Article

  • Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

    Published in:
    European Heart Journal, 2020, v. 41, n. 28, p. 2618, doi. 10.1093/eurheartj/ehaa531
    By:
    • Helgadottir, Anna;
    • Thorleifsson, Gudmar;
    • Alexandersson, Kristjan F;
    • Tragante, Vinicius;
    • Thorsteinsdottir, Margret;
    • Eiriksson, Finnur F;
    • Gretarsdottir, Solveig;
    • Björnsson, Eythór;
    • Magnusson, Olafur;
    • Sveinbjornsson, Gardar;
    • Jonsdottir, Ingileif;
    • Steinthorsdottir, Valgerdur;
    • Ferkingstad, Egil;
    • Jensson, Brynjar Ö;
    • Stefansson, Hreinn;
    • Olafsson, Isleifur;
    • Christensen, Alex H;
    • Torp-Pedersen, Christian;
    • Køber, Lars;
    • Pedersen, Ole B
    Publication type:
    Article

  • Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

    Published in:
    European Heart Journal, 2018, v. 39, n. 23, p. 2172, doi. 10.1093/eurheartj/ehy169
    By:
    • Helgadottir, Anna;
    • Sulem, Patrick;
    • Thorgeirsson, Gudmundur;
    • Gretarsdottir, Solveig;
    • Thorleifsson, Gudmar;
    • Jensson, Brynjar Ö;
    • Arnadottir, Gudny A;
    • Olafsson, Isleifur;
    • Eyjolfsson, Gudmundur I;
    • Sigurdardottir, Olof
    Publication type:
    Article

  • Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.

    Published in:
    Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05079-4
    By:
    • Kristjansson, Ragnar P.;
    • Oskarsson, Gudjon R.;
    • Skuladottir, Astros;
    • Oddsson, Asmundur;
    • Rognvaldsson, Solvi;
    • Sveinbjornsson, Gardar;
    • Lund, Sigrun H.;
    • Jensson, Brynjar O.;
    • Styrmisdottir, Edda L.;
    • Halldorsson, Gisli H.;
    • Ferkingstad, Egil;
    • Eldjarn, Grimur Hjorleifsson;
    • Beyter, Doruk;
    • Kristmundsdottir, Snædis;
    • Juliusson, Kristinn;
    • Fridriksdottir, Run;
    • Arnadottir, Gudny A.;
    • Katrinardottir, Hildigunnur;
    • Snorradottir, Margret H.;
    • Tragante, Vinicius
    Publication type:
    Article

  • NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640
    By:
    • den Hollander, Bibiche;
    • Rasing, Anne;
    • Post, Merel A.;
    • Klein, Willemijn M.;
    • Oud, Machteld M.;
    • Brands, Marion M.;
    • de Boer, Lonneke;
    • Engelke, Udo F. H.;
    • van Essen, Peter;
    • Fuchs, Sabine A.;
    • Haaxma, Charlotte A.;
    • Jensson, Brynjar O.;
    • Kluijtmans, Leo A. J.;
    • Lengyel, Anna;
    • Lichtenbelt, Klaske D.;
    • Østergaard, Elsebet;
    • Peters, Gera;
    • Salvarinova, Ramona;
    • Simon, Marleen E. H.;
    • Stefansson, Kari
    Publication type:
    Article