Found: 21

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  • Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

    Published in:
    Nature Communications, 2017, v. 8, n. 2, p. 14265, doi. 10.1038/ncomms14265
    By:
    • Bjornsdottir, Gyda;
    • Benonisdottir, Stefania;
    • Sveinbjornsson, Gardar;
    • Styrkarsdottir, Unnur;
    • Thorleifsson, Gudmar;
    • Walters, G. Bragi;
    • Bjornsson, Aron;
    • Olafsson, Ingvar H.;
    • Ulfarsson, Elfar;
    • Vikingsson, Arnor;
    • Hansdottir, Ragnheidur;
    • Karlsson, Karl O.;
    • Rafnar, Thorunn;
    • Jonsdottir, Ingileif;
    • Frigge, Michael L.;
    • Kong, Augustine;
    • Oddsson, Asmundur;
    • Masson, Gisli;
    • Magnusson, Olafur T.;
    • Gudbjartsson, Tomas
    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

  • 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 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

  • A rare missense variant in NR1H4 associates with lower cholesterol levels.

    Published in:
    Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0015-9
    By:
    • Deaton, Aimee M.;
    • Sulem, Patrick;
    • Nioi, Paul;
    • Benonisdottir, Stefania;
    • Ward, Lucas D.;
    • Davidsson, Olafur B.;
    • Lao, Socheata;
    • Helgadottir, Anna;
    • Fan, Fan;
    • Jensson, Brynjar O.;
    • Norddahl, Gudmundur L.;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Kristjansson, Ragnar P.;
    • Oddsson, Asmundur;
    • Arnadottir, Gudny A.;
    • Jonsson, Hakon;
    • Olafsson, Isleifur;
    • Eyjolfsson, Gudmundur I.
    Publication type:
    Article

  • GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09860-0
    By:
    • Styrkarsdottir, Unnur;
    • Stefansson, Olafur A.;
    • Gunnarsdottir, Kristbjorg;
    • Thorleifsson, Gudmar;
    • Lund, Sigrun H.;
    • Stefansdottir, Lilja;
    • Juliusson, Kristinn;
    • Agustsdottir, Arna B.;
    • Zink, Florian;
    • Halldorsson, Gisli H.;
    • Ivarsdottir, Erna V.;
    • Benonisdottir, Stefania;
    • Jonsson, Hakon;
    • Gylfason, Arnaldur;
    • Norland, Kristjan;
    • Trajanoska, Katerina;
    • Boer, Cindy G.;
    • Southam, Lorraine;
    • Leung, Jason C. S.;
    • Tang, Nelson L. S.
    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

  • 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

  • Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07460-y
    By:
    • Ferkingstad, Egil;
    • Oddsson, Asmundur;
    • Gretarsdottir, Solveig;
    • Benonisdottir, Stefania;
    • Thorleifsson, Gudmar;
    • Deaton, Aimee M.;
    • Jonsson, Stefan;
    • Stefansson, Olafur A.;
    • Norddahl, Gudmundur L.;
    • Zink, Florian;
    • Arnadottir, Gudny A.;
    • Gunnarsson, Bjarni;
    • Halldorsson, Gisli H.;
    • Helgadottir, Anna;
    • Jensson, Brynjar O.;
    • Kristjansson, Ragnar P.;
    • Sveinbjornsson, Gardar;
    • Sverrisson, David A.;
    • Masson, Gisli;
    • Olafsson, Isleifur
    Publication type:
    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

  • The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02224-9
    By:
    • Ivarsdottir, Erna V.;
    • Holm, Hilma;
    • Benonisdottir, Stefania;
    • Olafsdottir, Thorhildur;
    • Sveinbjornsson, Gardar;
    • Thorleifsson, Gudmar;
    • Eggertsson, Hannes P.;
    • Halldorsson, Gisli H.;
    • Hjorleifsson, Kristjan E.;
    • Melsted, Pall;
    • Gylfason, Arnaldur;
    • Arnadottir, Gudny A.;
    • Oddsson, Asmundur;
    • Jensson, Brynjar O.;
    • Jonasdottir, Aslaug;
    • Jonasdottir, Adalbjorg;
    • Juliusdottir, Thorhildur;
    • Stefansdottir, Lilja;
    • Tragante, Vinicius;
    • Halldorsson, Bjarni V.
    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

  • Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-14144-8
    By:
    • Olafsdottir, Thorunn A.;
    • Theodors, Fannar;
    • Bjarnadottir, Kristbjorg;
    • Bjornsdottir, Unnur Steina;
    • Agustsdottir, Arna B.;
    • Stefansson, Olafur A.;
    • Ivarsdottir, Erna V.;
    • Sigurdsson, Jon K.;
    • Benonisdottir, Stefania;
    • Eyjolfsson, Gudmundur I.;
    • Gislason, David;
    • Gislason, Thorarinn;
    • Guðmundsdóttir, Steinunn;
    • Gylfason, Arnaldur;
    • Halldorsson, Bjarni V.;
    • Halldorsson, Gisli H.;
    • Juliusdottir, Thorhildur;
    • Kristinsdottir, Anna M.;
    • Ludviksdottir, Dora;
    • Ludviksson, Bjorn R.
    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

  • Genetic insight into sick sinus syndrome.

    Published in:
    European Heart Journal, 2021, v. 42, n. 20, p. 1959, doi. 10.1093/eurheartj/ehaa1108
    By:
    • Thorolfsdottir, Rosa B;
    • Sveinbjornsson, Gardar;
    • Aegisdottir, Hildur M;
    • Benonisdottir, Stefania;
    • Stefansdottir, Lilja;
    • Ivarsdottir, Erna V;
    • Halldorsson, Gisli H;
    • Sigurdsson, Jon K;
    • Torp-Pedersen, Christian;
    • Weeke, Peter E;
    • Brunak, Søren;
    • Westergaard, David;
    • Pedersen, Ole B;
    • Sorensen, Erik;
    • Nielsen, Kaspar R;
    • Burgdorf, Kristoffer S;
    • Banasik, Karina;
    • Brumpton, Ben;
    • Zhou, Wei;
    • Oddsson, Asmundur
    Publication type:
    Article

  • Identification of Lynch syndrome risk variants in the Romanian population.

    Published in:
    Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 12, p. 6068, doi. 10.1111/jcmm.13881
    By:
    • Iordache, Paul D.;
    • Mates, Dana;
    • Gunnarsson, Bjarni;
    • Eggertsson, Hannes P.;
    • Sulem, Patrick;
    • Benonisdottir, Stefania;
    • Csiki, Irma Eva;
    • Rascu, Stefan;
    • Radavoi, Daniel;
    • Ursu, Radu;
    • Staicu, Catalin;
    • Calota, Violeta;
    • Voinoiu, Angelica;
    • Jinga, Mariana;
    • Rosoga, Gabriel;
    • Danau, Razvan;
    • Sima, Sorin Cristian;
    • Badescu, Daniel;
    • Suciu, Nicoleta;
    • Radoi, Viorica
    Publication type:
    Article

  • Profile of common prostate cancer risk variants in an unscreened Romanian population.

    Published in:
    Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 3, p. 1574, doi. 10.1111/jcmm.13433
    By:
    • Iordache, Paul D.;
    • Mates, Dana;
    • Gunnarsson, Bjarni;
    • Eggertsson, Hannes P.;
    • Sulem, Patrick;
    • Guðmundsson, Júlíus;
    • Benónísdóttir, Stefania;
    • Csiki, Irma Eva;
    • Rascu, Stefan;
    • Radavoi, Daniel;
    • Ursu, Radu;
    • Staicu, Catalin;
    • Calota, Violeta;
    • Voinoiu, Angelica;
    • Jinga, Mariana;
    • Rosoga, Gabriel;
    • Danau, Razvan;
    • Sima, Sorin Cristian;
    • Badescu, Daniel;
    • Suciu, Nicoleta
    Publication type:
    Article

  • Correction: Obesity and risk of female reproductive conditions: A Mendelian randomisation study.

    Published in:
    PLoS Medicine, 2022, v. 19, n. 9, p. 1, doi. 10.1371/journal.pmed.1004095
    By:
    • Venkatesh, Samvida S.;
    • Ferreira, Teresa;
    • Benonisdottir, Stefania;
    • Rahmioglu, Nilufer;
    • Becker, Christian M.;
    • Granne, Ingrid;
    • Zondervan, Krina T.;
    • Holmes, Michael V.;
    • Lindgren, Cecilia M.;
    • Wittemans, Laura B. L.
    Publication type:
    Article

  • Obesity and risk of female reproductive conditions: A Mendelian randomisation study.

    Published in:
    2022
    By:
    • Venkatesh, Samvida S.;
    • Ferreira, Teresa;
    • Benonisdottir, Stefania;
    • Rahmioglu, Nilufer;
    • Becker, Christian M.;
    • Granne, Ingrid;
    • Zondervan, Krina T.;
    • Holmes, Michael V.;
    • Lindgren, Cecilia M.;
    • Wittemans, Laura B. L.
    Publication type:
    journal article