Found: 16

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  • Rare mutations associating with serum creatinine and chronic kidney disease.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6935, doi. 10.1093/hmg/ddu399
    By:
    • Sveinbjornsson, Gardar;
    • Mikaelsdottir, Evgenia;
    • Palsson, Runolfur;
    • Indridason, Olafur S.;
    • Holm, Hilma;
    • Jonasdottir, Aslaug;
    • Helgason, Agnar;
    • Sigurdsson, Snaevar;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Eyjolfsson, Gudmundur Ingi;
    • Sigurdardottir, Olof;
    • Magnusson, Olafur Th.;
    • Kong, Augustine;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Olafsson, Isleifur;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    Publication type:
    Article

  • Rare mutations associating with serum creatinine and chronic kidney disease.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu399
    By:
    • Sveinbjornsson, Gardar;
    • Mikaelsdottir, Evgenia;
    • Palsson, Runolfur;
    • Indridason, Olafur S.;
    • Holm, Hilma;
    • Jonasdottir, Aslaug;
    • Helgason, Agnar;
    • Sigurdsson, Snaevar;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Eyjolfsson, Gudmundur Ingi;
    • Sigurdardottir, Olof;
    • Magnusson, Olafur Th.;
    • Kong, Augustine;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Olafsson, Isleifur;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    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

  • A common variant at 8q24.21 is associated with renal cell cancer.

    Published in:
    Nature Communications, 2013, v. 4, n. 11, p. 2776, doi. 10.1038/ncomms3776
    By:
    • Gudmundsson, Julius;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Masson, Gisli;
    • Petursdottir, Vigdis;
    • Hardarson, Sverrir;
    • Gudjonsson, Sigurjon A.;
    • Johannsdottir, Hrefna;
    • Helgadottir, Hafdis Th.;
    • Stacey, Simon N.;
    • Magnusson, Olafur Th.;
    • Helgason, Hannes;
    • Panadero, Angeles;
    • van der Zanden, Loes F.;
    • Aben, Katja K. H.;
    • Vermeulen, Sita H.;
    • Oosterwijk, Egbert;
    • Kong, Augustine;
    • Mayordomo, Jose I.;
    • Sverrisdottir, Asgerdur
    Publication type:
    Article

  • 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

  • Rate of de novo mutations and the importance of father's age to disease risk.

    Published in:
    Nature, 2012, v. 488, n. 7412, p. 471, doi. 10.1038/nature11396
    By:
    • Kong, Augustine;
    • Frigge, Michael L.;
    • Masson, Gisli;
    • Besenbacher, Soren;
    • Sulem, Patrick;
    • Magnusson, Gisli;
    • Gudjonsson, Sigurjon A.;
    • Sigurdsson, Asgeir;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Wong, Wendy S. W.;
    • Sigurdsson, Gunnar;
    • Walters, G. Bragi;
    • Steinberg, Stacy;
    • Helgason, Hannes;
    • Thorleifsson, Gudmar;
    • Gudbjartsson, Daniel F.;
    • Helgason, Agnar;
    • Magnusson, Olafur Th.;
    • Thorsteinsdottir, Unnur
    Publication type:
    Article

  • Identification of a large set of rare complete human knockouts.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 448, doi. 10.1038/ng.3243
    By:
    • Sulem, Patrick;
    • Oddson, Asmundur;
    • Stefansson, Hreinn;
    • Gudjonsson, Sigurjon A;
    • Zink, Florian;
    • Hjartarson, Eirikur;
    • Sigurdsson, Gunnar Th;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Magnusson, Olafur Th;
    • Masson, Gisli;
    • Helgason, Hannes;
    • Kong, Augustine;
    • Gudbjartsson, Daniel F;
    • Helgason, Agnar;
    • Holm, Hilma;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    Publication type:
    Article

  • Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 445, doi. 10.1038/ng.3246
    By:
    • Steinberg, Stacy;
    • Stefansson, Hreinn;
    • Jonsson, Thorlakur;
    • Johannsdottir, Hrefna;
    • Ingason, Andres;
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Magnusson, Olafur Th;
    • Gudjonsson, Sigurjon A;
    • Unnsteinsdottir, Unnur;
    • Kong, Augustine;
    • Westlye, Lars T;
    • Selbæk, Geir;
    • Giegling, Ina;
    • Rujescu, Dan;
    • Hampel, Harald;
    • Hiltunen, Mikko;
    • Andreassen, Ole A;
    • Jonsson, Palmi V;
    • Bjornsson, Sigurbjorn
    Publication type:
    Article

  • A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.

    Published in:
    Nature Genetics, 2013, v. 45, n. 11, p. 1371, doi. 10.1038/ng.2740
    By:
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Duvvari, Maheswara R;
    • Luo, Hongrong;
    • Thorleifsson, Gudmar;
    • Stefansson, Hreinn;
    • Jonsdottir, Ingileif;
    • Masson, Gisli;
    • Gudbjartsson, Daniel F;
    • Walters, G Bragi;
    • Magnusson, Olafur Th;
    • Kong, Augustine;
    • Rafnar, Thorunn;
    • Kiemeney, Lambertus A;
    • Schoenmaker-Koller, Frederieke E;
    • Zhao, Ling;
    • Boon, Camiel J F;
    • Song, Yaojun;
    • Fauser, Sascha;
    • Pei, Michelle
    Publication type:
    Article

  • A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 12, p. 1326, doi. 10.1038/ng.2437
    By:
    • Gudmundsson, Julius;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F;
    • Masson, Gisli;
    • Agnarsson, Bjarni A;
    • Benediktsdottir, Kristrun R;
    • Sigurdsson, Asgeir;
    • Magnusson, Olafur Th;
    • Gudjonsson, Sigurjon A;
    • Magnusdottir, Droplaug N;
    • Johannsdottir, Hrefna;
    • Helgadottir, Hafdis Th;
    • Stacey, Simon N;
    • Jonasdottir, Adalbjorg;
    • Olafsdottir, Stefania B;
    • Thorleifsson, Gudmar;
    • Jonasson, Jon G;
    • Tryggvadottir, Laufey;
    • Navarrete, Sebastian;
    • Fuertes, Fernando
    Publication type:
    Article

  • A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 316, doi. 10.1038/ng.781
    By:
    • Holm, Hilma;
    • Gudbjartsson, Daniel F.;
    • Sulem, Patrick;
    • Masson, Gisli;
    • Helgadottir, Hafdis Th;
    • Zanon, Carlo;
    • Magnusson, Olafur Th;
    • Helgason, Agnar;
    • Saemundsdottir, Jona;
    • Gylfason, Arnaldur;
    • Stefansdottir, Hrafnhildur;
    • Gretarsdottir, Solveig;
    • Matthiasson, Stefan E.;
    • Thorgeirsson, Guðmundur;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Stefansson, Hreinn;
    • Werge, Thomas;
    • Rafnar, Thorunn;
    • Kiemeney, Lambertus A.
    Publication type:
    Article

  • A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09719-4
    By:
    • Bjornsdottir, Gyda;
    • Ivarsdottir, Erna V.;
    • Bjarnadottir, Kristbjorg;
    • Benonisdottir, Stefania;
    • Gylfadottir, Sandra Sif;
    • Arnadottir, Gudny A.;
    • Benediktsson, Rafn;
    • Halldorsson, Gisli Hreinn;
    • Helgadottir, Anna;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Jonsdottir, Ingileif;
    • Kristinsdottir, Anna Margret;
    • Magnusson, Olafur Th.;
    • Masson, Gisli;
    • Melsted, Pall;
    • Rafnar, Thorunn;
    • Sigurdsson, Asgeir;
    • Sigurdsson, Gunnar;
    • Skuladottir, Astros
    Publication type:
    Article

  • Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model.

    Published in:
    Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0261-9
    By:
    • Toonen, Lodewijk J. A.;
    • Overzier, Maurice;
    • Evers, Melvin M.;
    • Leon, Leticia G.;
    • van der Zeeuw, Sander A. J.;
    • Mei, Hailiang;
    • Kielbasa, Szymon M.;
    • Goeman, Jelle J.;
    • Hettne, Kristina M.;
    • Magnusson, Olafur Th.;
    • Poirel, Marion;
    • Seyer, Alexandre;
    • 't Hoen, Peter A. C.;
    • van Roon-Mom, Willeke M. C.
    Publication type:
    Article

  • A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2364, doi. 10.1093/hmg/ddx123
    By:
    • Bjornsson, Eythor;
    • Helgason, Hannes;
    • Halldorsson, Gisli;
    • Helgadottir, Anna;
    • Gylfason, Arnaldur;
    • Kehr, Birte;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Oddsson, Asmundur;
    • Thorleifsson, Gudmar;
    • Magnusson, Olafur Th.;
    • Gretarsdottir, Solveig;
    • Zink, Florian;
    • Kristjansson, Ragnar P.;
    • Asgeirsdottir, Margret;
    • Swinkels, Dorine W.;
    • Kiemeney, Lambertus A.;
    • Eyjolfsson, Gudmundur I.;
    • Sigurdardottir, Olof
    Publication type:
    Article

  • A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.

    Published in:
    European Heart Journal, 2017, v. 38, n. 1, p. 1, doi. 10.1093/eurheartj/ehw379
    By:
    • Gudbjartsson, Daniel F.;
    • Holm, Hilma;
    • Sulem, Patrick;
    • Masson, Gisli;
    • Oddsson, Asmundur;
    • Magnusson, Olafur Th.;
    • Saemundsdottir, Jona;
    • Helgadottir, Hafdis Th.;
    • Helgason, Hannes;
    • Johannsdottir, Hrefna;
    • Gretarsdottir, Solveig;
    • Gudjonsson, Sigurjon A.;
    • Njølstad, Inger;
    • Løchen, Maja-Lisa;
    • Baum, Larry;
    • Ma, Ronald C.W.;
    • Sigfusson, Gunnlaugur;
    • Kong, Augustine;
    • Thorgeirsson, Guðmundur;
    • Sverrisson, Jon Th.
    Publication type:
    Article

  • Multi-nucleotide de novo Mutations in Humans.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006315
    By:
    • Besenbacher, Søren;
    • Sulem, Patrick;
    • Helgason, Agnar;
    • Helgason, Hannes;
    • Kristjansson, Helgi;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Magnusson, Olafur Th.;
    • Thorsteinsdottir, Unnur;
    • Masson, Gisli;
    • Kong, Augustine;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    Publication type:
    Article