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Browsing by Author "Sigurðsson, Ásgeir"

Browsing by Author "Sigurðsson, Ásgeir"

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    Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 
    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdóttir, Sylvía; Sigurðsson, Ásgeir; Hampel, Heather; Snaebjornsson, Petur; Másson, Gísli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; sulem, patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurðsson, Fridbjörn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdóttir, Margrét; Alexíusdóttir, Kristín; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jónasson, Jón Gunnlaugur; Goldberg, Richard M.; Stefansson, Kari (Springer Nature, 2017-05-03)
    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
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    COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA 
    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 ...
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    Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank 
    Ólafsdóttir, Thorhildur; Thorleifsson, Gudmar; sulem, patrick; Stefánsson, Ólafur A.; Medek, Helga; Olafsson, Karl; Ingþórsson, Orri; Guðmundsson, Valur; Jonsdottir, Ingileif; Halldorsson, Gisli; Kristjansson, Ragnar; Frigge, Michael L.; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Oddsson, Asmundur; Sigurðsson, Ásgeir; Eggertsson, Hannes P.; Melsted, Páll; Halldórsson, Bjarni; Lund, Sigrún Helga; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Gudmundsson, Julius; Holm, Hilma; Tragante do O, Vinicius; Asselbergs, Folkert; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Jónsdóttir, Kristín; Rafnar, Thorunn; Stefansson, Kari (Springer Science and Business Media LLC, 2020-03-17)
    Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total ...
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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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    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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    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 IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma 
    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 ...