Found: 87

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  • 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

  • Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. e1608, doi. 10.1210/clinem/dgad734
    By:
    • Styrkarsdottir, Unnur;
    • Tragante, Vinicius;
    • Stefansdottir, Lilja;
    • Thorleifsson, Gudmar;
    • Oddsson, Asmundur;
    • Sørensen, Erik;
    • Erikstrup, Christian;
    • Schwarz, Peter;
    • Jørgensen, Henrik Løvendahl;
    • Lauritzen, Jes Bruun;
    • Brunak, Søren;
    • Knowlton, Kirk U;
    • Nadauld, Lincoln D;
    • Ullum, Henrik;
    • Pedersen, Ole Birger Vesterager;
    • Ostrowski, Sisse Rye;
    • Holm, Hilma;
    • Gudbjartsson, Daniel F;
    • Sulem, Patrick;
    • Stefansson, Kari
    Publication type:
    Article

  • Polygenic risk scores associate with blood pressure traits across the lifespan.

    Published in:
    European Journal of Preventive Cardiology, 2024, v. 31, n. 6, p. 644, doi. 10.1093/eurjpc/zwad365
    By:
    • Øvretveit, Karsten;
    • Ingeström, Emma M L;
    • Spitieris, Michail;
    • Tragante, Vinicius;
    • Wade, Kaitlin H;
    • Thomas, Laurent F;
    • Wolford, Brooke N;
    • Wisløff, Ulrik;
    • Gudbjartsson, Daniel F;
    • Holm, Hilma;
    • Stefansson, Kari;
    • Brumpton, Ben M;
    • Hveem, Kristian
    Publication type:
    Article

  • Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01313-8
    By:
    • Møller, Peter Loof;
    • Rohde, Palle Duun;
    • Dahl, Jonathan Nørtoft;
    • Rasmussen, Laust Dupont;
    • Nissen, Louise;
    • Schmidt, Samuel Emil;
    • McGilligan, Victoria;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari;
    • Holm, Hilma;
    • Bentzon, Jacob Fog;
    • Bøttcher, Morten;
    • Winther, Simon;
    • Nyegaard, Mette
    Publication type:
    Article

  • A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.

    Published in:
    Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03207-9
    By:
    • Sigurpalsdottir, Brynja D.;
    • Stefansson, Olafur A.;
    • Holley, Guillaume;
    • Beyter, Doruk;
    • Zink, Florian;
    • Hardarson, Marteinn Þ.;
    • Sverrisson, Sverrir Þ.;
    • Kristinsdottir, Nina;
    • Magnusdottir, Droplaug N.;
    • Magnusson, Olafur Þ.;
    • Gudbjartsson, Daniel F.;
    • Halldorsson, Bjarni V.;
    • Stefansson, Kari
    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

  • 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

  • Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.

    Published in:
    Arthritis & Rheumatology, 2023, v. 75, n. 4, p. 544, doi. 10.1002/art.42376
    By:
    • Styrkarsdottir, Unnur;
    • Lund, Sigrun H.;
    • Thorleifsson, Gudmar;
    • Saevarsdottir, Saedis;
    • Gudbjartsson, Daniel F.;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    Publication type:
    Article

  • Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33076-4
    By:
    • Norddahl, Gudmundur L.;
    • Melsted, Pall;
    • Gunnarsdottir, Kristbjorg;
    • Halldorsson, Gisli H.;
    • Olafsdottir, Thorunn A.;
    • Gylfason, Arnaldur;
    • Kristjansson, Mar;
    • Magnusson, Olafur T.;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Thorsteinsdottir, Unnur;
    • Jonsdottir, Ingileif;
    • Stefansson, Kari
    Publication type:
    Article

  • Comment on "Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics".

    Published in:
    Science Translational Medicine, 2021, v. 13, n. 622, p. 1, doi. 10.1126/scitranslmed.abe8497
    By:
    • Hólm, Hilma;
    • Sulem, Patrick;
    • Tragante, Vinicius;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    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

  • GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13341-9
    By:
    • Eggertsson, Hannes P.;
    • Kristmundsdottir, Snaedis;
    • Beyter, Doruk;
    • Jonsson, Hakon;
    • Skuladottir, Astros;
    • Hardarson, Marteinn T.;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari;
    • Halldorsson, Bjarni V.;
    • Melsted, Pall
    Publication type:
    Article

  • Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09304-9
    By:
    • Ivarsdottir, Erna V.;
    • Benonisdottir, Stefania;
    • Thorleifsson, Gudmar;
    • Sulem, Patrick;
    • Oddsson, Asmundur;
    • Styrkarsdottir, Unnur;
    • Kristmundsdottir, Snaedis;
    • Arnadottir, Gudny A.;
    • Thorgeirsson, Gudmundur;
    • Jonsdottir, Ingileif;
    • Zoega, Gunnar M.;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Jonasson, Fridbert;
    • Holm, Hilma;
    • Stefansson, Kari
    Publication type:
    Article

  • Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08107-8
    By:
    • Went, Molly;
    • Sud, Amit;
    • Försti, Asta;
    • Halvarsson, Britt-Marie;
    • Weinhold, Niels;
    • Kimber, Scott;
    • van Duin, Mark;
    • Thorleifsson, Gudmar;
    • Holroyd, Amy;
    • Johnson, David C.;
    • Ni Li;
    • Orlando, Giulia;
    • Law, Philip J.;
    • Ali, Mina;
    • Bowang Chen;
    • Mitchell, Jonathan S.;
    • Gudbjartsson, Daniel F.;
    • Kuiper, Rowan;
    • Stephens, Owen W.;
    • Bertsch, Uta
    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

  • Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06920-9
    By:
    • Gudmundsson, Julius;
    • Sigurdsson, Jon K.;
    • Stefansdottir, Lilja;
    • Agnarsson, Bjarni A.;
    • Isaksson, Helgi J.;
    • Stefansson, Olafur A.;
    • Gudjonsson, Sigurjon A.;
    • Gudbjartsson, Daniel F.;
    • Masson, Gisli;
    • Frigge, Michael L.;
    • Stacey, Simon N.;
    • Sulem, Patrick;
    • Halldorsson, Gisli H.;
    • Tragante, Vinicius;
    • Holm, Hilma;
    • Eyjolfsson, Gudmundur I.;
    • Sigurdardottir, Olof;
    • Olafsson, Isleifur;
    • Jonsson, Thorvaldur;
    • Jonsson, Eirikur
    Publication type:
    Article

  • Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04989-w
    By:
    • Went, Molly;
    • Sud, Amit;
    • Försti, Asta;
    • Halvarsson, Britt-Marie;
    • Weinhold, Niels;
    • Kimber, Scott;
    • van Duin, Mark;
    • Thorleifsson, Gudmar;
    • Holroyd, Amy;
    • Johnson, David C.;
    • Li, Ni;
    • Orlando, Giulia;
    • Law, Philip J.;
    • Ali, Mina;
    • Chen, Bowang;
    • Mitchell, Jonathan S.;
    • Gudbjartsson, Daniel F.;
    • Kuiper, Rowan;
    • Stephens, Owen W.;
    • Bertsch, Uta
    Publication type:
    Article

  • PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04766-9
    By:
    • van Setten, Jessica;
    • Brody, Jennifer A.;
    • Jamshidi, Yalda;
    • Swenson, Brenton R.;
    • Butler, Anne M.;
    • Campbell, Harry;
    • Del Greco, Fabiola M.;
    • Evans, Daniel S.;
    • Gibson, Quince;
    • Gudbjartsson, Daniel F.;
    • Kerr, Kathleen F.;
    • Krijthe, Bouwe P.;
    • Lyytikäinen, Leo-Pekka;
    • Müller, Christian;
    • Müller-Nurasyid, Martina;
    • Nolte, Ilja M.;
    • Padmanabhan, Sandosh;
    • Ritchie, Marylyn D.;
    • Robino, Antonietta;
    • Smith, Albert V.
    Publication type:
    Article

  • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04611-z
    By:
    • Gusarova, Viktoria;
    • O’Dushlaine, Colm;
    • Teslovich, Tanya M.;
    • Benotti, Peter N.;
    • Mirshahi, Tooraj;
    • Gottesman, Omri;
    • Van Hout, Cristopher V.;
    • Murray, Michael F.;
    • Mahajan, Anubha;
    • Nielsen, Jonas B.;
    • Fritsche, Lars;
    • Wulff, Anders Berg;
    • Gudbjartsson, Daniel F.;
    • Sjögren, Marketa;
    • Emdin, Connor A.;
    • Scott, Robert A.;
    • Wen-Jane Lee;
    • Small, Aeron;
    • Kwee, Lydia C.;
    • Dwivedi, Om Prakash
    Publication type:
    Article

  • Age and Influenza-Specific Pre-Vaccination Antibodies Strongly Affect Influenza Vaccine Responses in the Icelandic Population whereas Disease and Medication Have Small Effects.

    Published in:
    Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2017.01872
    By:
    • Olafsdottir, Thorunn A.;
    • Alexandersson, Kristjan F.;
    • Sveinbjornsson, Gardar;
    • Lapini, Giulia;
    • Palladino, Laura;
    • Montomoli, Emanuele;
    • Del Giudice, Giuseppe;
    • Gudbjartsson, Daniel F.;
    • Jonsdottir, Ingileif
    Publication type:
    Article

  • Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction.

    Published in:
    2018
    By:
    • Reginsson, Gunnar W.;
    • Ingason, Andres;
    • Euesden, Jack;
    • Bjornsdottir, Gyda;
    • Olafsson, Sigurgeir;
    • Sigurdsson, Engilbert;
    • Oskarsson, Hogni;
    • Tyrfingsson, Thorarinn;
    • Runarsdottir, Valgerdur;
    • Hansdottir, Ingunn;
    • Steinberg, Stacy;
    • Stefansson, Hreinn;
    • Gudbjartsson, Daniel F.;
    • Thorgeirsson, Thorgeir E.;
    • Stefansson, Kari
    Publication type:
    journal 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

  • Reproductive fitness and genetic risk of psychiatric disorders in the general population.

    Published in:
    Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15833
    By:
    • Mullins, Niamh;
    • Ingason, Andrés;
    • Porter, Heather;
    • Euesden, Jack;
    • Gillett, Alexandra;
    • Ólafsson, Sigurgeir;
    • Gudbjartsson, Daniel F.;
    • Lewis, Cathryn M.;
    • Sigurdsson, Engilbert;
    • Saemundsen, Evald;
    • Gudmundsson, Ólafur Ó.;
    • Frigge, Michael L.;
    • Kong, Augustine;
    • Helgason, Agnar;
    • Walters, G. Bragi;
    • Gustafsson, Omar;
    • Stefansson, Hreinn;
    • Stefansson, Kari
    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

  • 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

  • Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

    Published in:
    Nature Communications, 2016, v. 7, n. 7, p. 12050, doi. 10.1038/ncomms12050
    By:
    • Mitchell, Jonathan S.;
    • Li, Ni;
    • Weinhold, Niels;
    • Försti, Asta;
    • Ali, Mina;
    • van Duin, Mark;
    • Thorleifsson, Gudmar;
    • Johnson, David C.;
    • Chen, Bowang;
    • Halvarsson, Britt-Marie;
    • Gudbjartsson, Daniel F.;
    • Kuiper, Rowan;
    • Stephens, Owen W.;
    • Bertsch, Uta;
    • Broderick, Peter;
    • Campo, Chiara;
    • Einsele, Hermann;
    • Gregory, Walter A.;
    • Gullberg, Urban;
    • Henrion, Marc
    Publication type:
    Article

  • Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.

    Published in:
    Nature Communications, 2016, v. 7, n. 7, p. 12350, doi. 10.1038/ncomms12350
    By:
    • Steinthorsdottir, Valgerdur;
    • Thorleifsson, Gudmar;
    • Aradottir, Kristrun;
    • Feenstra, Bjarke;
    • Sigurdsson, Asgeir;
    • Stefansdottir, Lilja;
    • Kristinsdottir, Anna M.;
    • Zink, Florian;
    • Halldorsson, Gisli H.;
    • Munk Nielsen, Nete;
    • Geller, Frank;
    • Melbye, Mads;
    • Gudbjartsson, Daniel F.;
    • Geirsson, Reynir T.;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    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

  • 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

  • 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 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

  • 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

  • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

    Published in:
    Nature Genetics, 2014, v. 46, n. 8, p. 826, doi. 10.1038/ng.3014
    By:
    • Arking, Dan E;
    • Pulit, Sara L;
    • Crotti, Lia;
    • van der Harst, Pim;
    • Munroe, Patricia B;
    • Koopmann, Tamara T;
    • Sotoodehnia, Nona;
    • Rossin, Elizabeth J;
    • Morley, Michael;
    • Wang, Xinchen;
    • Johnson, Andrew D;
    • Lundby, Alicia;
    • Gudbjartsson, Daníel F;
    • Noseworthy, Peter A;
    • Eijgelsheim, Mark;
    • Bradford, Yuki;
    • Tarasov, Kirill V;
    • Dörr, Marcus;
    • Müller-Nurasyid, Martina;
    • Lahtinen, Annukka M
    Publication type:
    Article

  • Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 11, p. 3045, doi. 10.1093/hmg/ddt671
    By:
    • Stacey, Simon N.;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Jonasdottir, Aslaug;
    • Thorleifsson, Gudmar;
    • Gudjonsson, Sigurjon A.;
    • Masson, Gisli;
    • Gudmundsson, Julius;
    • Sigurgeirsson, Bardur;
    • Benediktsdottir, Kristrun R.;
    • Thorisdottir, Kristin;
    • Ragnarsson, Rafn;
    • Fuentelsaz, Victoria;
    • Corredera, Cristina;
    • Grasa, Matilde;
    • Planelles, Dolores;
    • Sanmartin, Onofre;
    • Rudnai, Peter;
    • Gurzau, Eugene;
    • Koppova, Kvetoslava
    Publication type:
    Article

  • Common and low-frequency variants associated with genome-wide recombination rate.

    Published in:
    Nature Genetics, 2014, v. 46, n. 1, p. 11, doi. 10.1038/ng.2833
    By:
    • Kong, Augustine;
    • Thorleifsson, Gudmar;
    • Frigge, Michael L;
    • Masson, Gisli;
    • Gudbjartsson, Daniel F;
    • Villemoes, Rasmus;
    • Magnusdottir, Erna;
    • Olafsdottir, Stefania B;
    • Thorsteinsdottir, Unnur;
    • Stefansson, Kari
    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 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

  • Genetic Architecture of Vitamin B<sub>12</sub> and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003530
    By:
    • Grarup, Niels;
    • Sulem, Patrick;
    • Sandholt, Camilla H.;
    • Thorleifsson, Gudmar;
    • Ahluwalia, Tarunveer S.;
    • Steinthorsdottir, Valgerdur;
    • Bjarnason, Helgi;
    • Gudbjartsson, Daniel F.;
    • Magnusson, Olafur T.;
    • Sparsø, Thomas;
    • Albrechtsen, Anders;
    • Kong, Augustine;
    • Masson, Gisli;
    • Tian, Geng;
    • Cao, Hongzhi;
    • Nie, Chao;
    • Kristiansen, Karsten;
    • Husemoen, Lise Lotte;
    • Thuesen, Betina;
    • Li, Yingrui
    Publication type:
    Article

  • Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

    Published in:
    Nature, 2013, v. 497, n. 7450, p. 517, doi. 10.1038/nature12124
    By:
    • Styrkarsdottir, Unnur;
    • Thorleifsson, Gudmar;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Sigurdsson, Asgeir;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Oddsson, Asmundur;
    • Helgason, Agnar;
    • Magnusson, Olafur T.;
    • Walters, G. Bragi;
    • Frigge, Michael L.;
    • Helgadottir, Hafdis T.;
    • Johannsdottir, Hrefna;
    • Bergsteinsdottir, Kristin;
    • Ogmundsdottir, Margret H.;
    • Center, Jacqueline R.;
    • Nguyen, Tuan V.;
    • Eisman, John A.;
    • Christiansen, Claus
    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

  • 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

  • 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

  • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

    Published in:
    Nature Genetics, 2012, v. 44, n. 3, p. 260, doi. 10.1038/ng.1051
    By:
    • Stolk, Lisette;
    • Perry, John R B;
    • Chasman, Daniel I;
    • He, Chunyan;
    • Mangino, Massimo;
    • Sulem, Patrick;
    • Barbalic, Maja;
    • Broer, Linda;
    • Byrne, Enda M;
    • Ernst, Florian;
    • Esko, Tõnu;
    • Franceschini, Nora;
    • Gudbjartsson, Daniel F;
    • Hottenga, Jouke-Jan;
    • Kraft, Peter;
    • McArdle, Patrick F;
    • Porcu, Eleonora;
    • Shin, So-Youn;
    • Smith, Albert V;
    • van Wingerden, Sophie
    Publication type:
    Article

  • Discovery of common variants associated with low TSH levels and thyroid cancer risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 3, p. 319, doi. 10.1038/ng.1046
    By:
    • Gudmundsson, Julius;
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F;
    • Jonasson, Jon G;
    • Masson, Gisli;
    • He, Huiling;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Stacey, Simon N;
    • Johannsdottir, Hrefna;
    • Th Helgadottir, Hafdis;
    • Li, Wei;
    • Nagy, Rebecca;
    • Ringel, Matthew D;
    • Kloos, Richard T;
    • de Visser, Marieke C H;
    • Plantinga, Theo S;
    • den Heijer, Martin;
    • Aguillo, Esperanza;
    • Panadero, Angeles
    Publication type:
    Article

  • A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

    Published in:
    Nature Genetics, 2011, v. 43, n. 11, p. 1098, doi. 10.1038/ng.926
    By:
    • Stacey, Simon N;
    • Sulem, Patrick;
    • Jonasdottir, Aslaug;
    • Masson, Gisli;
    • Gudmundsson, Julius;
    • Gudbjartsson, Daniel F;
    • Magnusson, Olafur T;
    • Gudjonsson, Sigurjon A;
    • Sigurgeirsson, Bardur;
    • Thorisdottir, Kristin;
    • Ragnarsson, Rafn;
    • Benediktsdottir, Kristrun R;
    • Nexø, Bjørn A;
    • Tjønneland, Anne;
    • Overvad, Kim;
    • Rudnai, Peter;
    • Gurzau, Eugene;
    • Koppova, Kvetoslava;
    • Hemminki, Kari;
    • Corredera, Cristina
    Publication type:
    Article

  • Mutations in BRIP1 confer high risk of ovarian cancer.

    Published in:
    Nature Genetics, 2011, v. 43, n. 11, p. 1104, doi. 10.1038/ng.955
    By:
    • Rafnar, Thorunn;
    • Gudbjartsson, Daniel F;
    • Sulem, Patrick;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Jonasdottir, Adalbjorg;
    • Besenbacher, Soren;
    • Lundin, Pär;
    • Stacey, Simon N;
    • Gudmundsson, Julius;
    • Magnusson, Olafur T;
    • le Roux, Louise;
    • Orlygsdottir, Gudbjorg;
    • Helgadottir, Hafdis T;
    • Johannsdottir, Hrefna;
    • Gylfason, Arnaldur;
    • Tryggvadottir, Laufey;
    • Jonasson, Jon G;
    • de Juan, Ana;
    • Ortega, Eugenia
    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

  • Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 10, p. 2071, doi. 10.1093/hmg/ddr086
    By:
    • Sulem, Patrick;
    • Gudbjartsson, Daniel F.;
    • Geller, Frank;
    • Prokopenko, Inga;
    • Feenstra, Bjarke;
    • Aben, Katja K.H.;
    • Franke, Barbara;
    • den Heijer, Martin;
    • Kovacs, Peter;
    • Stumvoll, Michael;
    • Mägi, Reedik;
    • Yanek, Lisa R.;
    • Becker, Lewis C.;
    • Boyd, Heather A.;
    • Stacey, Simon N.;
    • Walters, G. Bragi;
    • Jonasdottir, Adalbjorg;
    • Thorleifsson, Gudmar;
    • Holm, Hilma;
    • Gudjonsson, Sigurjon A.
    Publication type:
    Article