Found: 6

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  • 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 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

  • 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

  • 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