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Fletta eftir höfundi "Norðdahl, Guðmundur L."

Fletta eftir höfundi "Norðdahl, Guðmundur L."

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    Genome-wide association meta-analysis yields 20 loci associated with gallstone disease 
    Ferkingstad, Egil; Oddsson, Asmundur; Gretarsdottir, Solveig; Benonisdottir, Stefania; Thorleifsson, Gudmar; Deaton, Aimee M.; Jónsson, Stefán; Stefánsson, Ólafur A.; Norðdahl, Guðmundur L.; Zink, Florian; Arnadottir, Gudny; Gunnarsson, Bjarni; Halldorsson, Gisli; Helgadottir, Anna; Jensson, Brynjar Örn; Kristjánsson, Ragnar P.; Sveinbjornsson, Gardar; Sverrisson, Davíð A.; Másson, Gísli; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Holm, Hilma; Jonsdottir, Ingileif; Ólafsson, Sigurður; Steingrimsdottir, Thora; Rafnar, Thorunn; Björnsson, Einar Stefán; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2018-11-30)
    Gallstones are responsible for one of the most common diseases in the Western world and are commonly treated with cholecystectomy. We perform a meta-analysis of two genomewide association studies of gallstone disease in Iceland and the UK, totaling ...
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    A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease 
    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 ...
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    Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes 
    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 ...
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    MAP1B mutations cause intellectual disability and extensive white matter deficit 
    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 ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    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 ...
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    A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy 
    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 ...
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    A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta 
    Björnsson, Þorsteinn; Þórólfsdóttir, Rósa B.; Sveinbjornsson, Gardar; sulem, patrick; Norðdahl, Guðmundur L.; Helgadóttir, Anna; Grétarsdóttir, Sólveig; Magnusdóttir, Auður; Danielsen, Ragnar; Sigurðsson, Emil Lárus; Adalsteinsdottir, Berglind; Gunnarsson, Sverrir I; Jonsdottir, Ingileif; Arnar, Davíð O.; Helgason, Hróðmar; Gudbjartsson, Tomas; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-24)
    Aims Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence ...