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Browsing by Author "Rafnar, Thorunn"

Browsing by Author "Rafnar, Thorunn"

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    Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures 
    Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Gudjonsson, Sigurjon A.; Sigurdsson, Asgeir; Center, Jacqueline R.; Lee, Seung Hun; Nguyen, Tuan V.; Kwok, Timothy C.Y.; Lee, Jenny S.W.; Ho, Suzanne C.; Woo, Jean; Leung, Ping-C.; Kim, Beom-Jun; Rafnar, Thorunn; Kiemeney, Lambertus A.; Ingvarsson, Þorvaldur; Koh, Jung-Min; Tang, Nelson L.S.; Eisman, John A.; Christiansen, Claus; Sigurdsson, Gunnar; Thorsteinsdottir, Unnur; Stefansson, Kari (Springer Science and Business Media LLC, 2016-01-06)
    Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found ...
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    Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits 
    Rafnar, Thorunn; Bjarni Gunnarsson; Ólafur A. Stefánsson; sulem, patrick; Ingason, Andrés; Frigge, Michael L.; Lilja Stefánsdóttir; Jón K. Sigurðsson; Tragante, Vinicius; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Stacey, Simon N.; Gudmundsson, Julius; Arnadottir, Gudny; Oddsson, Asmundur; Zink, Florian; Halldorsson, Gisli; Sveinbjornsson, Gardar; Kristjansson, Ragnar; Ólafur B. Davíðsson; Anna Þórhildur Salvarsdóttir; Ásgeir Thoroddsen; Elísabet A. Helgadottir; Katrín Kristjánsdóttir; Orri Ingþórsson; Valur Guðmundsson; Geirsson, Reynir T.; Ragnheiður Árnadottir; Gudbjartsson, Daniel; Másson, Gísli; Asselbergs, Folkert W.; Jón Gunnlaugur Jónasson; Karl Ólafsson; Thorsteinsdottir, Unnur; Halldórsson, Bjarni; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-09-07)
    Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with ...
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    Whole genome characterization of sequence diversity of 15,220 Icelanders 
    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 ...