Found: 22

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  • Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 20, p. 5545, doi. 10.1093/hmg/ddu264
    By:
    • Rafnar, Thorunn;
    • Sulem, Patrick;
    • Thorleifsson, Gudmar;
    • Vermeulen, Sita H.;
    • Helgason, Hannes;
    • Saemundsdottir, Jona;
    • Gudjonsson, Sigurjon A.;
    • Sigurdsson, Asgeir;
    • Stacey, Simon N.;
    • Gudmundsson, Julius;
    • Johannsdottir, Hrefna;
    • Alexiusdottir, Kristin;
    • Petursdottir, Vigdis;
    • Nikulasson, Sigfus;
    • Geirsson, Gudmundur;
    • Jonsson, Thorvaldur;
    • Aben, Katja K.H.;
    • Grotenhuis, Anne J.;
    • Verhaegh, Gerald W.;
    • Dudek, Aleksandra M.
    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 variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

    Published in:
    Nature, 2008, v. 452, n. 7187, p. 638, doi. 10.1038/nature06846
    By:
    • Thorgeirsson, Thorgeir E.;
    • Geller, Frank;
    • Sulem, Patrick;
    • Rafnar, Thorunn;
    • Wiste, Anna;
    • Magnusson, Kristinn P.;
    • Manolescu, Andrei;
    • Thorleifsson, Gudmar;
    • Stefansson, Hreinn;
    • Ingason, Andres;
    • Stacey, Simon N.;
    • Bergthorsson, Jon T.;
    • Thorlacius, Steinunn;
    • Gudmundsson, Julius;
    • Jonsson, Thorlakur;
    • Jakobsdottir, Margret;
    • Saemundsdottir, Jona;
    • Olafsdottir, Olof;
    • Gudmundsson, Larus J.;
    • Bjornsdottir, Gyda
    Publication type:
    Article

  • 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

  • Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis.

    Published in:
    British Journal of Cancer, 2023, v. 129, n. 7, p. 1142, doi. 10.1038/s41416-023-02374-z
    By:
    • Magnusson, Magnus I.;
    • Agnarsson, Bjarni A.;
    • Jonasson, Jon G.;
    • Tryggvason, Thordur;
    • Aeffner, Famke;
    • le Roux, Louise;
    • Magnusdottir, Droplaug N.;
    • Gunnarsdottir, Helga S.;
    • Alexíusdóttir, Kristín K.;
    • Gunnarsdottir, Kristbjorg;
    • Söebech, Emilia;
    • Runarsdottir, Hjaltey;
    • Jonsdottir, Erna M.;
    • Kristinsdottir, Bjarney S.;
    • Olafsson, Sigurgeir;
    • Knutsdottir, Hildur;
    • Thorsteinsdottir, Unnur;
    • Ulfarsson, Magnus O.;
    • Gudbjartsson, Daniel F.;
    • Saemundsdottir, Jona
    Publication type:
    Article

  • Identification of low-frequency variants associated with gout and serum uric acid levels.

    Published in:
    Nature Genetics, 2011, v. 43, n. 11, p. 1127, doi. 10.1038/ng.972
    By:
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F;
    • Walters, G Bragi;
    • Helgadottir, Hafdis T;
    • Helgason, Agnar;
    • Gudjonsson, Sigurjon A;
    • Zanon, Carlo;
    • Besenbacher, Soren;
    • Bjornsdottir, Gyda;
    • Magnusson, Olafur T;
    • Magnusson, Gisli;
    • Hjartarson, Eirikur;
    • Saemundsdottir, Jona;
    • Gylfason, Arnaldur;
    • Jonasdottir, Adalbjorg;
    • Holm, Hilma;
    • Karason, Ari;
    • Rafnar, Thorunn;
    • Stefansson, Hreinn;
    • Andreassen, Ole A
    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

  • Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

    Published in:
    Nature Genetics, 2010, v. 42, n. 8, p. 692, doi. 10.1038/ng.622
    By:
    • Gretarsdottir, Solveig;
    • Baas, Annette F.;
    • Thorleifsson, Gudmar;
    • Holm, Hilma;
    • den Heijer, Martin;
    • de Vries, Jean-Paul P. M.;
    • Kranendonk, Steef E.;
    • Zeebregts, Clark J. A. M.;
    • van Sterkenburg, Steven M.;
    • Geelkerken, Robert H.;
    • van Rij, Andre M.;
    • Williams, Michael J. A.;
    • Boll, Albert P. M.;
    • Kostic, Jelena P.;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Walters, G. Bragi;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Saemundsdottir, Jona
    Publication type:
    Article

  • Corrigendum: Variant in the sequence of the LINGO1 gene confers risk of essential tremor.

    Published in:
    2009
    By:
    • Stefansson, Hreinn;
    • Steinberg, Stacy;
    • Petursson, Hjorvar;
    • Gustafsson, Omar;
    • Gudjonsdottir, Iris H;
    • Jonsdottir, Gudrun A;
    • Palsson, Stefan T;
    • Jonsson, Thorlakur;
    • Saemundsdottir, Jona;
    • Bjornsdottir, Gyda;
    • Böttcher, Yvonne;
    • Thorlacius, Theodora;
    • Haubenberger, Dietrich;
    • Zimprich, Alexander;
    • Auff, Eduard;
    • Hotzy, Christoph;
    • Testa, Claudia M;
    • Miyatake, Lisa A;
    • Rosen, Ami R;
    • Kristleifsson, Kristleifur
    Publication type:
    Correction notice

  • Variant in the sequence of the LINGO1 gene confers risk of essential tremor.

    Published in:
    Nature Genetics, 2009, v. 41, n. 3, p. 277, doi. 10.1038/ng.299
    By:
    • Stefansson, Hreinn;
    • Steinberg, Stacy;
    • Petursson, Hjorvar;
    • Gustafsson, Omar;
    • Gudjonsdottir, Iris H.;
    • Jonsdottir, Gudrun A.;
    • Palsson, Stefan T.;
    • Jonsson, Thorlakur;
    • Saemundsdottir, Jona;
    • Bjornsdottir1, Gyda;
    • Böttcher, Yvonne;
    • Thorlacius, Theodora;
    • Haubenberger, Dietrich;
    • Zimprich, Alexander;
    • Auff, Eduard;
    • Hotzy, Christoph;
    • Testa, Claudia M.;
    • Miyatake, Lisa A.;
    • Rosen, Ami R.;
    • Kristleifsson, Kristleifur
    Publication type:
    Article

  • New sequence variants associated with bone mineral density.

    Published in:
    Nature Genetics, 2009, v. 41, n. 1, p. 15, doi. 10.1038/ng.284
    By:
    • Styrkarsdottir, Unnur;
    • Halldorsson, Bjarni V.;
    • Gretarsdottir, Solveig;
    • Gudbjartsson, Daniel F.;
    • Walters, G. Bragi;
    • Ingvarsson, Thorvaldur;
    • Jonsdottir, Thorbjorg;
    • Saemundsdottir, Jona;
    • Snorradóttir, Steinunn;
    • Center, Jacqueline R.;
    • Nguyen, Tuan V.;
    • Alexandersen, Peter;
    • Gulcher, Jeffrey R.;
    • Eisman, John A.;
    • Christiansen, Claus;
    • Sigurdsson, Gunnar;
    • Kong, Augustine;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    Publication type:
    Article

  • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.

    Published in:
    Nature Genetics, 2006, v. 38, n. 3, p. 320, doi. 10.1038/ng1732
    By:
    • Grant, Struan F. A.;
    • Thorleifsson, Gudmar;
    • Reynisdottir, Inga;
    • Benediktsson, Rafn;
    • Manolescu, Andrei;
    • Sainz, Jesus;
    • Helgason, Agnar;
    • Stefansson, Hreinn;
    • Emilsson, Valur;
    • Helgadottir, Anna;
    • Styrkarsdottir, Unnur;
    • Magnusson, Kristinn P.;
    • Walters, G. Bragi;
    • Palsdottir, Ebba;
    • Jonsdottir, Thorbjorg;
    • Gudmundsdottir, Thorunn;
    • Gylfason, Arnaldur;
    • Saemundsdottir, Jona;
    • Wilensky, Robert L.;
    • Reilly, Muredach P.
    Publication type:
    Article

  • HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03893-w
    By:
    • Olafsdottir, Thorunn A.;
    • Bjarnadottir, Kristbjorg;
    • Norddahl, Gudmundur L.;
    • Halldorsson, Gisli H.;
    • Melsted, Pall;
    • Gunnarsdottir, Kristbjorg;
    • Ivarsdottir, Erna;
    • Olafsdottir, Thorhildur;
    • Arnthorsson, Asgeir O.;
    • Theodors, Fannar;
    • Eythorsson, Elias;
    • Helgason, Dadi;
    • Eggertsson, Hannes P.;
    • Masson, Gisli;
    • Bjarnadottir, Sólveig;
    • Saevarsdottir, Saedis;
    • Runolfsdottir, Hrafnhildur L.;
    • Olafsson, Isleifur;
    • Saemundsdottir, Jona;
    • Sigurdsson, Martin 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

  • Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.

    Published in:
    2018
    By:
    • Rafnar, Thorunn;
    • Sigurjonsdottir, Gudbjorg R;
    • Stacey, Simon N;
    • Halldorsson, Gisli;
    • Sulem, Patrick;
    • Pardo, Luba M;
    • Helgason, Hannes;
    • Sigurdsson, Stefan T;
    • Gudjonsson, Thorkell;
    • Tryggvadottir, Laufey;
    • Olafsdottir, Gudridur H;
    • Jonasson, Jon G;
    • Alexiusdottir, Kristin;
    • Sigurdsson, Asgeir;
    • Gudmundsson, Julius;
    • Saemundsdottir, Jona;
    • Sigurdsson, Jon K;
    • Johannsdottir, Hrefna;
    • Uitterlinden, Andre;
    • Vermeulen, Sita H
    Publication type:
    journal 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

  • 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

  • Predicting the probability of death using proteomics.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02289-6
    By:
    • Eiriksdottir, Thjodbjorg;
    • Ardal, Steinthor;
    • Jonsson, Benedikt A.;
    • Lund, Sigrun H.;
    • Ivarsdottir, Erna V.;
    • Norland, Kristjan;
    • Ferkingstad, Egil;
    • Stefansson, Hreinn;
    • Jonsdottir, Ingileif;
    • Holm, Hilma;
    • Rafnar, Thorunn;
    • Saemundsdottir, Jona;
    • Norddahl, Gudmundur L.;
    • Thorgeirsson, Gudmundur;
    • Gudbjartsson, Daniel F.;
    • Sulem, Patrick;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari;
    • Ulfarsson, Magnus O.
    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

  • 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

  • Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.

    Published in:
    Annals of Neurology, 2008, v. 64, n. 4, p. 402, doi. 10.1002/ana.21480
    By:
    • Gretarsdottir, Solveig;
    • Thorleifsson, Gudmar;
    • Manolescu, Andrei;
    • Styrkarsdottir, Unnur;
    • Helgadottir, Anna;
    • Gschwendtner, Andreas;
    • Kostulas, Konstantinos;
    • Kuhlenbäumer, Gregor;
    • Bevan, Steve;
    • Jonsdottir, Thorbjorg;
    • Bjarnason, Hjordis;
    • Saemundsdottir, Jona;
    • Palsson, Stefan;
    • Arnar, David O.;
    • Holm, Hilma;
    • Thorgeirsson, Gudmundur;
    • Valdimarsson, Einar Mar;
    • Sveinbjörnsdottir, Sigurlaug;
    • Gieger, Christian;
    • Berger, Klaus
    Publication type:
    Article