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Browsing by Author "Jónasdóttir, Aðalbjörg"

Browsing by Author "Jónasdóttir, Aðalbjörg"

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  • Jensson, Brynjar Örn; Hansdottir, Sif; Arnadottir, Gudny; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benonisdottir, Stefania; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; sulem, patrick; Guðmundsson, Gunnar; Stefansson, Kari (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
  • Arnadottir, Gudny; Norðdahl, Guðmundur L.; Gudmundsdottir, Steinunn; Ágústsdóttir, Arna B.; Sigurðsson, Snævar; Jensson, Brynjar Örn; Bjarnadóttir, Kristbjörg; Theodórs, Fannar; Benonisdottir, Stefania; Ívarsdóttir, Erna V.; Oddsson, Asmundur; Kristjánsson, Ragnar P.; Sulem, Gerald; Alexandersson, Kristján F.; Júlíusdóttir, Þórhildur; Guðmundsson, Kjartan R.; Sæmundsdóttir, Jóna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Manzanillo, Paolo; Guðjónsson, Sigurjón Axel; Thorisson, Gudmundur A.; Magnússon, Ólafur Þ.; Másson, Gísli; Örvar, Kjartan B.; Holm, Hilma; Björnsson, Sigurður; Arngrimsson, Reynir; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Haraldsson, Ásgeir; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2018-10-25)
    Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein ...
  • Gudbjartsson, Daniel; Thorgeirsson, Gudmundur; sulem, patrick; Helgadottir, Anna; Gylfason, Arnaldur; Sæmundsdóttir, Jóna; Björnsson, Eyþór; Norðdahl, Guðmundur L.; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Eggertsson, Hannes; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Indridason, Olafur Skuli; Palsson, Runolfur; Jónasson, Friðbert; Jonsdottir, Ingileif; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Danielsen, Ragnar; Matthíasson, Stefán E.; Kristmundsdóttir, Snædís; Halldórsson, Bjarni V.; Hreiðarsson, Ástráður Benedikt; Valdimarsson, Einar M.; Gudnason, Thorarinn; Benediktsson, Rafn; Steinthorsdottir, Valgerdur; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Elsevier BV, 2019-12-17)
    Background: Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not established. Low levels of Lp(a) have been associated with type 2 ...
  • Walters, G. Bragi; Gústafsson, Ómar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur Kristin; Ágústsdóttir, Arna B.; Jónsdóttir, Guðrún A.; Steinberg, Stacy; Gunnarsson, Árni F.; Magnússon, Magnús I.; Unnsteinsdóttir, Unnur; Lee, Amy L.; Jónasdóttir, Aðalbjörg; Sigurðsson, Ásgeir; Jónasdóttir, Áslaug; Skúladóttir, Ástrós; Jonsson, Lina; Nawaz, Muhammad S.; sulem, patrick; Frigge, Mike; Ingason, Andrés; Love, Askell; Norðdahl, Guðmundur L.; Zervas, Mark; Gudbjartsson, Daniel; Ulfarsson, Magnus; Sæmundsen, Evald E.; Stefansson, Hreinn; Stefansson, Kari (Springer Science and Business Media LLC, 2018-08-27)
    Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant ...
  • Óskarsson, Guðjón R.; Oddsson, Asmundur; Magnusson, Magnus Karl; Kristjansson, Ragnar; Halldorsson, Gisli; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ívarsdóttir, Erna V.; Arnadottir, Gudny; Jensson, Brynjar Örn; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdóttir, Anna Margrét; Lee, Amy L.; Sæmundsdóttir, Jóna; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Davíðsson, Ólafur B.; Benonisdottir, Stefania; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Jonsson, Stefan; Guðmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Másson, Gísli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Önundarson, Páll Torfi; Gudbjartsson, Daniel; Norðdahl, Guðmundur L.; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
  • Bjornsdottir, Gyda; Ívarsdóttir, Erna V.; Bjarnadóttir, Kristbjörg; Benonisdottir, Stefania; Gylfadottir, Sandra Sif; Arnadottir, Gudny; Benediktsson, Rafn; Halldorsson, Gisli; Helgadottir, Anna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Jonsdottir, Ingileif; Kristinsdóttir, Anna Margrét; Magnússon, Ólafur T.; Másson, Gísli; Melsted, Páll; Rafnar, Thorunn; Sigurðsson, Ásgeir; Sigurdsson, Gunnar; Skúladóttir, Ástrós; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Vikingsson, Arnor; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Hreinn; Thorsteinsdottir, Unnur; Norðdahl, Guðmundur L.; sulem, patrick; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Science and Business Media LLC, 2019-04-16)
    Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders ...
  • Smith, Dirk; Helgason, Hannes; sulem, patrick; Björnsdóttir, Unnur Steina; Lim, Ai Ching; Sveinbjornsson, Gardar; Hasegawa, Haruki; Brown, Michael; Ketchem, Randal R.; Gavala, Monica; Garrett, Logan; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Magnússon, Ólafur T.; Eyjólfsson, Guðmundur I.; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Sigurðardóttir, Ólöf; Gíslason, Davíð; Gislason, Thorarinn; Ludviksson, Bjorn; Lúðvíksdóttir, Dóra; Boezen, H. Marike; Heinzmann, Andrea; Krueger, Marcus; Porsbjerg, Celeste; Ahluwalia, Tarunveer S.; Waage, Johannes; Backer, Vibeke; Deichmann, Klaus A.; Koppelman, Gerard H.; Bønnelykke, Klaus; Bisgaard, Hans; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Johnston, James A.; Jonsdottir, Ingileif; Stefansson, Kari (Public Library of Science (PLoS), 2017-03-08)
    IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with ...
  • Jónsson, Hákon; sulem, patrick; Kehr, Birte; Kristmundsdóttir, Snædís; Zink, Florian; Hjartarson, Eiríkur; Hardarson, Marteinn; Hjorleifsson, Kristjan; Eggertsson, Hannes; Guðjónsson, Sigurjón Axel; Ward, Lucas D.; Arnadottir, Gudny; Helgason, Einar A.; Helgason, Hannes; Gylfason, Arnaldur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Rafnar, Thorunn; Besenbacher, Soren; Frigge, Michael L.; Stacey, Simon N.; Magnússon, Ólafur T.; Þorsteinsdóttir, Unnur; Másson, Gísli; Kong, Augustine; Halldórsson, Bjarni; Helgason, Agnar; Gudbjartsson, Daniel; Stefansson, Kari (Springer Nature, 2017-09-21)
    Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide ...