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Browsing by Author "Oskarsson, Gudjon R."

Browsing by Author "Oskarsson, Gudjon R."

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    Genetic architecture of band neutrophil fraction in Iceland 
    Oskarsson, Gudjon R.; Magnússon, Magnús Karl; Oddson, Ásmundur; Jensson, Brynjar O; Friðriksdóttir, Rún; Arnadottir, Gudny A; Katrinardottir, Hildigunnur; Rögnvaldsson, Sölvi; Halldórsson, Gísli Hreinn; Sveinbjörnsson, Gardar; Ivarsdottir, Erna V.; Stefánsdóttir, Lilja; Ferkingstad, Egil; Norland, Kristjan; Tragante, Vinicius; Sæmundsdóttir, Jóna; Jónasdóttir, Áslaug; Jonasdottir, Adalbjorg; Sigurjonsdottir, Svanhvit; Petursdottir, Karen O.; Davidsson, Olafur B; Rafnar, Thorunn; Hólm, Hilma; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Viðarsson, Brynjar; Sigurdardottir, Olof G.; Másson, Gísli; Gudbjartsson, Daniel Fannar; Jónsdóttir, Ingileif; Norddahl, Gudmundur L.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-06-01)
    The characteristic lobulated nuclear morphology of granulocytes is partially determined by composition of nuclear envelope proteins. Abnormal nuclear morphology is primarily observed as an increased number of hypolobulated immature neutrophils, called ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    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; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (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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    Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria 
    Kristjansson, Ragnar P.; Oskarsson, Gudjon R.; Skuladottir, Astros; Oddsson, Asmundur; Rognvaldsson, Solvi; Sveinbjornsson, Gardar; Lund, Sigrun H.; Jensson, Brynjar O.; Styrmisdottir, Edda L.; Halldorsson, Gisli H.; Ferkingstad, Egil; Eldjarn, Grimur Hjorleifsson; Beyter, Doruk; Kristmundsdottir, Snædis; Juliusson, Kristinn; Fridriksdottir, Run; Arnadottir, Gudny A.; Katrinardottir, Hildigunnur; Snorradottir, Margret H.; Tragante, Vinicius; Stefansdottir, Lilja; Ivarsdottir, Erna V.; Bjornsdottir, Gyda; Halldorsson, Bjarni V.; Thorleifsson, Gudmar; Lúðvíksson, Björn Rúnar; Önundarson, Páll Torfi; Sævarsdóttir, Sædís; Melsted, Pall; Norddahl, Gudmundur L.; Björnsdóttir, Unnur Steina; Olafsdottir, Thorunn; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Sulem, Patrick; Stefansson, Kari (2023-07-10)
    Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total of 40,694 ...