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Fletta eftir höfundi "Rafnar, Thorunn"

Fletta eftir höfundi "Rafnar, Thorunn"

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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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    Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations 
    Ólafsson, Sigurgeir; Stridh, Pernilla; Bos, Steffan Daniël; Ingason, Andrés; Euesden, Jack; sulem, patrick; Thorleifsson, Gudmar; Gústafsson, Ómar; Jóhannesson, Ari; Geirsson, Árni J.; Þórsson, Árni V.; Sigurgeirsson, Bárður; Ludviksson, Bjorn; Ólafsson, Elías; Kristjansdottir, Helga; Jónasson, Jón G.; Ólafsson, Jón Hjaltalín; Örvar, Kjartan B.; Benediktsson, Rafn; Bjarnason, Ragnar Grímur; Kristjánsdóttir, Sjöfn; Gislason, Thorarinn; Valdimarsson, Trausti; Mikaelsdóttir, Evgenía; Sigurðsson, Snævar; Jonsson, Stefan; Rafnar, Thorunn; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Knudsen, Gun Peggy; Celius, Elisabeth G.; Myhr, Kjell-Morten; Gröndal, Gerður; Steinsson, Kristján; Valdimarsson, Helgi; Björnsson, Sigurður; Björnsdóttir, Unnur Steina; Björnsson, Einar Stefán; Nilsson, Bjorn; Andreassen, Ole A.; Alfredsson, Lars; Hillert, Jan; Kockum, Ingrid Skelton; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Hreinn; Hjaltason, Haukur; Harbo, Hanne F.; Olsson, Tomas; Jonsdottir, Ingileif; Stefansson, Kari (Springer Nature, 2017-08-08)
    A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported ...
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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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    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 genome-wide association study yields five novel thyroid cancer risk loci 
    Guðmundsson, Júlíus; Þorleifsson, Guðmar; Sigurðsson, Jón K.; Stefánsdóttir, Lilja; Jónasson, Jón G.; Guðjónsson, Sigurjón Axel; Gudbjartsson, Daniel; Másson, Gísli; Jóhannsdóttir, Hrefna; Halldórsson, Gísli H.; Stacey, Simon N.; Helgason, Hannes; sulem, patrick; Senter, Leigha; He, Huiling; Liyanarachchi, Sandya; Ringel, Matthew D.; Aguillo, Esperanza; Panadero, Angeles; Prats, Enrique; Garcia-Castaño, Almudena; De Juan, Ana; Rivera, Fernando; Xu, Li; Kiemeney, Lambertus A.; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Kristvinsson, Höskuldur; Netea-Maier, Romana T.; Jónsson, Þorvaldur; Mayordomo, Jose I.; Plantinga, Theo S.; Hjartarson, Hannes; Hrafnkelsson, Jón; Sturgis, Erich M.; Þorsteinsdóttir, Unnur; Rafnar, Thorunn; de la Chapelle, Albert; Stefansson, Kari (Springer Nature, 2017-02-14)
    The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European ...
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    Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA 
    Gudmundsson, Julius; Sigurðsson, Jón K.; Stefánsdóttir, Lilja; Agnarsson, Bjarni A.; Ísaksson, Helgi J.; Stefánsson, Ólafur A.; Guðjónsson, Sigurjón Axel; Gudbjartsson, Daniel; Másson, Gísli; Frigge, Michael L.; Stacey, Simon N.; sulem, patrick; Halldorsson, Gisli; Tragante, Vinicius; Holm, Hilma; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Olafsson, Isleifur; Jónsson, Þorvaldur; Jónsson, Eirikur; Barkardottir, Rosa Bjork; Hilmarsson, Rafn; Asselbergs, Folkert W.; Geirsson, Guðmundur; Thorsteinsdottir, Unnur; Rafnar, Thorunn; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-11-08)
    Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we report the results of a genome-wide association study of symptomatic BPH/LUTS in 20,621 patients ...
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    Identification of Lynch syndrome risk variants in the Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Mates, Ioan Nicolae; Dobra, Mihai; Nicolae, Camelia; Kristjansdottir, Sigrun; Jónasson, Jón G.; Manolescu, Andrei; Arnadottir, Gudny; Jensson, Brynjar Örn; Jonasdottir, Aslaug; Sigurdsson, Asgeir; le Roux, Louise; Johannsdottir, Hrefna; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2018-10-16)
    Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information ...
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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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    Profile of common prostate cancer risk variants in an unscreened Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Guðmundsson, Júlíus; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Manolescu, Andrei; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2017-12-20)
    To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male ...
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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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    Sequence variant at 4q25 near PITX2 associates with appendicitis 
    Kristjansson, Ragnar; Benonisdottir, Stefania; Oddsson, Asmundur; Galesloot, Tessel E.; Þorleifsson, Guðmar; Aben, Katja K.; Davíðsson, Ólafur B.; Jónsson, Stefán; Arnadottir, Gudny; Jensson, Brynjar Örn; Walters, G. Bragi; Sigurðsson, Jón K.; Sigurðsson, Snævar; Holm, Hilma; Arnar, Davíð O.; Thorgeirsson, Gudmundur; Alexíusdóttir, Kristín; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Kiemeney, Lambertus A.; Jónsson, Þorvaldur; Gudbjartsson, Daniel; Rafnar, Thorunn; sulem, patrick; Stefansson, Kari (Springer Nature, 2017-06-08)
    Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups ...
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    Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation 
    Bjornsdottir, Gyda; Benonisdottir, Stefania; Sveinbjornsson, Gardar; Styrkarsdottir, Unnur; Þorleifsson, Guðmar; Walters, G. Bragi; Björnsson, Aron; Ólafsson, Ingvar Hákon; Úlfarsson, Elfar; Víkingsson, Arnór; Hansdóttir, Ragnheiður; Karlsson, Karl O.; Rafnar, Thorunn; Jonsdottir, Ingileif; Frigge, Michael L.; Kong, Augustine; Oddsson, Asmundur; Másson, Gísli; Magnússon, Ólafur T.; Gudbjartsson, Tomas; Stefánsson, Hreinn; sulem, patrick; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Nature, 2017-02-22)
    Lumbar disc herniation (LDH) is common and often debilitating. Microdiscectomy of herniated lumbar discs (LDHsurg) is performed on the most severe cases to resolve the resulting sciatica. Here we perform a genome-wide association study on 4,748 LDHsurg ...
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    Sequence variants associating with urinary biomarkers 
    Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdóttir, Snædís; Ívarsdóttir, Erna V.; Tragante, Vinicius; Gunnarsson, Bjarni; Runolfsdottir, Hrafnhildur Linnet; Arthur, Joseph G; Deaton, Aimee M; Eyjolfsson, Gudmundur I; Davidsson, Olafur B; Asselbergs, Folkert W; Hreidarsson, Astradur B; Rafnar, Thorunn; Thorleifsson, Gudmar; Edvardsson, Vidar; Sigurdsson, Gunnar; Helgadottir, Anna; Halldórsson, Bjarni; Masson, Gisli; Holm, Hilma; Önundarson, Páll Torfi; Indridason, Olafur S; Benediktsson, Rafn; Palsson, Runolfur; Gudbjartsson, Daniel F; Olafsson, Isleifur; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Oxford University Press (OUP), 2018-11-24)
    Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. ...
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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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    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 ...