Found: 23

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  • Loss-of-function variants in ATM confer risk of gastric cancer.

    Published in:
    Nature Genetics, 2015, v. 47, n. 8, p. 906, doi. 10.1038/ng.3342
    By:
    • Helgason, Hannes;
    • Gudbjartsson, Daniel F;
    • Rafnar, Thorunn;
    • Sigurdsson, Asgeir;
    • Stacey, Simon N;
    • Jonasdottir, Adalbjorg;
    • le Roux, Louise;
    • Gudmundsson, Julius;
    • Johannsdottir, Hrefna;
    • Oddsson, Asmundur;
    • Gylfason, Arnaldur;
    • Magnusson, Olafur T;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Olafsdottir, Halla S;
    • Alexiusdottir, Kristin;
    • Jonasson, Jon G;
    • Tryggvadottir, Laufey;
    • Haraldsson, Asgeir;
    • Jonsson, Thorvaldur
    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

  • 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

  • Large-scale whole-genome sequencing of the Icelandic population.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 435, doi. 10.1038/ng.3247
    By:
    • Gudbjartsson, Daniel F;
    • Helgason, Hannes;
    • Gudbjartsson, Hakon;
    • Kong, Augustine;
    • Bjornsson, Einar S;
    • Olafsson, Sigurdur;
    • Thorarinsdottir, Hildur;
    • Theodors, Asgeir;
    • Steingrimsdottir, Thora;
    • Gudmundsdottir, Thora S;
    • Jonasson, Jon G;
    • Jonsson, Jon J;
    • Thorarensen, Olafur;
    • Ludvigsson, Petur;
    • Eyjolfsson, Gudmundur I;
    • Sigurdardottir, Olof;
    • Olafsson, Isleifur;
    • Gudjonsson, Sigurjon A;
    • Zink, Florian;
    • Oddson, Asmundur
    Publication type:
    Article

  • Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 3, p. 294, doi. 10.1038/ng.2882
    By:
    • Steinthorsdottir, Valgerdur;
    • Thorleifsson, Gudmar;
    • Sulem, Patrick;
    • Helgason, Hannes;
    • Grarup, Niels;
    • Sigurdsson, Asgeir;
    • Helgadottir, Hafdis T;
    • Johannsdottir, Hrefna;
    • Magnusson, Olafur T;
    • Gudjonsson, Sigurjon A;
    • Justesen, Johanne M;
    • Harder, Marie N;
    • Jørgensen, Marit E;
    • Christensen, Cramer;
    • Brandslund, Ivan;
    • Sandbæk, Annelli;
    • Lauritzen, Torsten;
    • Vestergaard, Henrik;
    • Linneberg, Allan;
    • Jørgensen, Torben
    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

  • 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

  • Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events.

    Published in:
    JAMA: Journal of the American Medical Association, 2023, v. 330, n. 8, p. 725, doi. 10.1001/jama.2023.13258
    By:
    • Helgason, Hannes;
    • Eiriksdottir, Thjodbjorg;
    • Ulfarsson, Magnus O.;
    • Choudhary, Abhishek;
    • Lund, Sigrun H.;
    • Ivarsdottir, Erna V.;
    • Hjorleifsson Eldjarn, Grimur;
    • Einarsson, Gudmundur;
    • Ferkingstad, Egil;
    • Moore, Kristjan H. S.;
    • Honarpour, Narimon;
    • Liu, Thomas;
    • Wang, Huei;
    • Hucko, Thomas;
    • Sabatine, Marc S.;
    • Morrow, David A.;
    • Giugliano, Robert P.;
    • Ostrowski, Sisse Rye;
    • Pedersen, Ole Birger;
    • Bundgaard, Henning
    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

  • A genome-wide association study yields five novel thyroid cancer risk loci.

    Published in:
    Nature Communications, 2017, v. 8, n. 2, p. 14517, doi. 10.1038/ncomms14517
    By:
    • Gudmundsson, Julius;
    • Thorleifsson, Gudmar;
    • Sigurdsson, Jon K.;
    • Stefansdottir, Lilja;
    • Jonasson, Jon G.;
    • Gudjonsson, Sigurjon A.;
    • Gudbjartsson, Daniel F.;
    • Masson, Gisli;
    • Johannsdottir, Hrefna;
    • Halldorsson, Gisli H.;
    • Stacey, Simon N.;
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Senter, Leigha;
    • He, Huiling;
    • Liyanarachchi, Sandya;
    • Ringel, Matthew D.;
    • Aguillo, Esperanza;
    • Panadero, Angeles;
    • Prats, Enrique
    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

  • Common and rare variants associated with kidney stones and biochemical traits.

    Published in:
    Nature Communications, 2015, v. 6, n. 8, p. 7975, doi. 10.1038/ncomms8975
    By:
    • Oddsson, Asmundur;
    • Sulem, Patrick;
    • Helgason, Hannes;
    • Edvardsson, Vidar O.;
    • Thorleifsson, Gudmar;
    • Sveinbjörnsson, Gardar;
    • Haraldsdottir, Eik;
    • Eyjolfsson, Gudmundur I.;
    • Sigurdardottir, Olof;
    • Olafsson, Isleifur;
    • Masson, Gisli;
    • Holm, Hilma;
    • Gudbjartsson, Daniel F.;
    • Thorsteinsdottir, Unnur;
    • Indridason, Olafur S.;
    • Palsson, Runolfur;
    • Stefansson, Kari
    Publication type:
    Article

  • New basal cell carcinoma susceptibility loci.

    Published in:
    Nature Communications, 2015, v. 6, n. 4, p. 6825, doi. 10.1038/ncomms7825
    By:
    • Stacey, Simon N.;
    • Helgason, Hannes;
    • Gudjonsson, Sigurjon A.;
    • Thorleifsson, Gudmar;
    • Zink, Florian;
    • Sigurdsson, Asgeir;
    • Kehr, Birte;
    • Gudmundsson, Julius;
    • Sulem, Patrick;
    • Sigurgeirsson, Bardur;
    • Benediktsdottir, Kristrun R.;
    • Thorisdottir, Kristin;
    • Ragnarsson, Rafn;
    • Fuentelsaz, Victoria;
    • Corredera, Cristina;
    • Gilaberte, Yolanda;
    • Grasa, Matilde;
    • Planelles, Dolores;
    • Sanmartin, Onofre;
    • Rudnai, Peter
    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

  • 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

  • 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

  • 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

  • A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 9, p. 1, doi. 10.1371/journal.pgen.1005379
    By:
    • Gretarsdottir, Solveig;
    • Helgason, Hannes;
    • Helgadottir, Anna;
    • Sigurdsson, Asgeir;
    • Thorleifsson, Gudmar;
    • Magnusdottir, Audur;
    • Oddsson, Asmundur;
    • Steinthorsdottir, Valgerdur;
    • Rafnar, Thorunn;
    • de Graaf, Jacqueline;
    • Daneshpour, Maryam S.;
    • Hedayati, Mehdi;
    • Azizi, Fereidoun;
    • Grarup, Niels;
    • Jørgensen, Torben;
    • Vestergaard, Henrik;
    • Hansen, Torben;
    • Eyjolfsson, Gudmundur;
    • Sigurdardottir, Olof;
    • Olafsson, Isleifur
    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

  • 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 rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006659
    By:
    • Smith, Dirk;
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Bjornsdottir, Unnur Steina;
    • Lim, Ai Ching;
    • Sveinbjornsson, Gardar;
    • Hasegawa, Haruki;
    • Brown, Michael;
    • Ketchem, Randal R.;
    • Gavala, Monica;
    • Garrett, Logan;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Magnusson, Olafur T.;
    • Eyjolfsson, Gudmundur I.;
    • Olafsson, Isleifur;
    • Onundarson, Pall Torfi;
    • Sigurdardottir, Olof;
    • Gislason, David
    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