Search Results - "Benónísdóttir, Stefania"

Profile of common prostate cancer risk variants in an unscreened Romanian population by Iordache, Paul D., Mates, Dana, Gunnarsson, Bjarni, Eggertsson, Hannes P., Sulem, Patrick, Guðmundsson, Júlíus, Benónísdóttir, 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 V., Jinga, Viorel, Stefánsson, Kári

“…To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS)…”
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The nature of nurture: Effects of parental genotypes by Kong, Augustine, Thorleifsson, Gudmar, Frigge, Michael L, Vilhjalmsson, Bjarni J, Young, Alexander I, Thorgeirsson, Thorgeir E, Benonisdottir, Stefania, Oddsson, Asmundur, Halldorsson, Bjarni V, Masson, Gisli, Gudbjartsson, Daniel F, Helgason, Agnar, Bjornsdottir, Gyda, Thorsteinsdottir, Unnur, Stefansson, Kari

“…Sequence variants in the parental genomes that are not transmitted to a child (the proband) are often ignored in genetic studies. Here we show that…”
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Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis by Olafsdottir, Thorunn A., Theodors, Fannar, Bjarnadottir, Kristbjorg, Bjornsdottir, Unnur Steina, Agustsdottir, Arna B., Stefansson, Olafur A., Ivarsdottir, Erna V., Sigurdsson, Jon K., Benonisdottir, Stefania, Eyjolfsson, Gudmundur I., Gislason, David, Gislason, Thorarinn, Guðmundsdóttir, Steinunn, Gylfason, Arnaldur, Halldorsson, Bjarni V., Halldorsson, Gisli H., Juliusdottir, Thorhildur, Kristinsdottir, Anna M., Ludviksdottir, Dora, Ludviksson, Bjorn R., Masson, Gisli, Norland, Kristjan, Onundarson, Pall T., Olafsson, Isleifur, Sigurdardottir, Olof, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, Stefansson, Kari

“…Asthma is one of the most common chronic diseases affecting both children and adults. We report a genome-wide association meta-analysis of 69,189 cases and…”
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Obesity and risk of female reproductive conditions: A Mendelian randomisation study by Venkatesh, Samvida S, Ferreira, Teresa, Benonisdottir, Stefania, Rahmioglu, Nilufer, Becker, Christian M, Granne, Ingrid, Zondervan, Krina T, Holmes, Michael V, Lindgren, Cecilia M, Wittemans, Laura B L

“…Obesity is observationally associated with altered risk of many female reproductive conditions. These include polycystic ovary syndrome (PCOS), abnormal…”
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Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density by Ivarsdottir, Erna V., Benonisdottir, Stefania, Thorleifsson, Gudmar, Sulem, Patrick, Oddsson, Asmundur, Styrkarsdottir, Unnur, Kristmundsdottir, Snaedis, Arnadottir, Gudny A., Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Zoega, Gunnar M., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonasson, Fridbert, Holm, Hilma, Stefansson, Kari

“…The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study of corneal endothelial…”
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A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis by Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th, Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, Stefansson, Kari

“…Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide…”
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GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures by Styrkarsdottir, Unnur, Stefansson, Olafur A., Gunnarsdottir, Kristbjorg, Thorleifsson, Gudmar, Lund, Sigrun H., Stefansdottir, Lilja, Juliusson, Kristinn, Agustsdottir, Arna B., Zink, Florian, Halldorsson, Gisli H., Ivarsdottir, Erna V., Benonisdottir, Stefania, Jonsson, Hakon, Gylfason, Arnaldur, Norland, Kristjan, Trajanoska, Katerina, Boer, Cindy G., Southam, Lorraine, Leung, Jason C. S., Tang, Nelson L. S., Kwok, Timothy C. Y., Lee, Jenny S. W., Ho, Suzanne C., Byrjalsen, Inger, Center, Jacqueline R., Lee, Seung Hun, Koh, Jung-Min, Lohmander, L. Stefan, Ho-Pham, Lan T., Nguyen, Tuan V., Eisman, John A., Woo, Jean, Leung, Ping-C., Loughlin, John, Zeggini, Eleftheria, Christiansen, Claus, Rivadeneira, Fernando, van Meurs, Joyce, Uitterlinden, Andre G., Mogensen, Brynjolfur, Jonsson, Helgi, Ingvarsson, Thorvaldur, Sigurdsson, Gunnar, Benediktsson, Rafn, Sulem, Patrick, Jonsdottir, Ingileif, Masson, Gisli, Holm, Hilma, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Kari

“…Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and…”
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Considerations in the search for epistasis by Balvert, Marleen, Cooper-Knock, Johnathan, Stamp, Julian, Byrne, Ross P., Mourragui, Soufiane, van Gils, Juami, Benonisdottir, Stefania, Schlüter, Johannes, Kenna, Kevin, Abeln, Sanne, Iacoangeli, Alfredo, Daub, Joséphine T., Browning, Brian L., Taş, Gizem, Hu, Jiajing, Wang, Yan, Alhathli, Elham, Harvey, Calum, Pianesi, Luna, Schulte, Sara C., González-Domínguez, Jorge, Garrisson, Erik, Al-Chalabi, Ammar, Cartes, Jorge Avila, Baaijens, Jasmijn, von Berg, Joanna, Bolognini, Davide, Bonizzoni, Paola, Guarracino, Andrea, Koyuturk, Mehmet, Markowska, Magda, Dandinasivara, Raghuram, van Bemmelen, Jasper, Vorbrugg, Sebastian, Zhang, Sai, Pasanuic, Bogdan, Snyder, Michael P., Schönhuth, Alexander, Sng, Letitia M. F., Twine, Natalie A.

“…Epistasis refers to changes in the effect on phenotype of a unit of genetic information, such as a single nucleotide polymorphism or a gene, dependent on the…”
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Correction: Obesity and risk of female reproductive conditions: A Mendelian randomisation study by Venkatesh, Samvida S, Ferreira, Teresa, Benonisdottir, Stefania, Rahmioglu, Nilufer, Becker, Christian M, Granne, Ingrid, Zondervan, Krina T, Holmes, Michael V, Lindgren, Cecilia M, Wittemans, Laura B. L

“…[This corrects the article DOI: 10.1371/journal.pmed.1003679.]…”
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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy by Bjornsdottir, Gyda, Ivarsdottir, Erna V., Bjarnadottir, Kristbjorg, Benonisdottir, Stefania, Gylfadottir, Sandra Sif, Arnadottir, Gudny A., Benediktsson, Rafn, Halldorsson, Gisli Hreinn, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Kristinsdottir, Anna Margret, Magnusson, Olafur Th, Masson, Gisli, Melsted, Pall, Rafnar, Thorunn, Sigurdsson, Asgeir, Sigurdsson, Gunnar, Skuladottir, Astros, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Vikingsson, Arnor, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Kari

“…Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We…”
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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase by Kristjansson, Ragnar P., Oddsson, Asmundur, Helgason, Hannes, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Bragi Walters, G., Sulem, Gerald, Oskarsdottir, Arna, Benonisdottir, Stefania, Davidsson, Olafur B., Masson, Gisli, Th Magnusson, Olafur, Holm, Hilma, Sigurdardottir, Olof, Jonsdottir, Ingileif, Eyjolfsson, Gudmundur I., Olafsson, Isleifur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari

“…Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK…”
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Epigenetic and genetic components of height regulation by Benonisdottir, Stefania, Oddsson, Asmundur, Helgason, Agnar, Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Oskarsdottir, Arna, Thorleifsson, Gudmar, Davidsson, Olafur B., Arnadottir, Gudny A., Sulem, Gerald, Jensson, Brynjar O., Holm, Hilma, Alexandersson, Kristjan F., Tryggvadottir, Laufey, Walters, G. Bragi, Gudjonsson, Sigurjon A., Ward, Lucas D., Sigurdsson, Jon K., Iordache, Paul D., Frigge, Michael L., Rafnar, Thorunn, Kong, Augustine, Masson, Gisli, Helgason, Hannes, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari

“…Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for…”
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Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation by Bjornsdottir, Gyda, Benonisdottir, Stefania, Sveinbjornsson, Gardar, Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Walters, G. Bragi, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Vikingsson, Arnor, Hansdottir, Ragnheidur, Karlsson, Karl O., Rafnar, Thorunn, Jonsdottir, Ingileif, Frigge, Michael L., Kong, Augustine, Oddsson, Asmundur, Masson, Gisli, Magnusson, Olafur T., Gudbjartsson, Tomas, Stefansson, Hreinn, Sulem, Patrick, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Thorgeirsson, Thorgeir E., Stefansson, Kari

“…Lumbar disc herniation (LDH) is common and often debilitating. Microdiscectomy of herniated lumbar discs (LDHsurg) is performed on the most severe cases to…”
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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA by Jensson, Brynjar O, Hansdottir, Sif, Arnadottir, Gudny A, Sulem, Gerald, Kristjansson, Ragnar P, Oddsson, Asmundur, Benonisdottir, Stefania, Jonsson, Hakon, Helgason, Agnar, Saemundsdottir, Jona, Magnusson, Olafur T, Masson, Gisli, Thorisson, Gudmundur A, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon R, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, Stefansson, Kari

“…Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney…”
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters by Arnadottir, Gudny A, Jensson, Brynjar O, Marelsson, Sigurdur E, Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P, Benonisdottir, Stefania, Gudjonsson, Sigurjon A, Masson, Gisli, Thorisson, Gudmundur A, Saemundsdottir, Jona, Magnusson, Olafur Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari

“…Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of…”
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Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures by Styrkarsdottir, Unnur, Stefansson, Olafur A., Gunnarsdottir, Kristbjorg, Thorleifsson, Gudmar, Lund, Sigrun H., Stefansdottir, Lilja, Juliusson, Kristinn, Agustsdottir, Arna B., Zink, Florian, Halldorsson, Gisli H., Ivarsdottir, Erna V., Benonisdottir, Stefania, Jonsson, Hakon, Gylfason, Arnaldur, Norland, Kristjan, Trajanoska, Katerina, Boer, Cindy G., Southam, Lorraine, Leung, Jason C. S., Tang, Nelson L. S., Kwok, Timothy C. Y., Lee, Jenny S. W., Ho, Suzanne C., Byrjalsen, Inger, Center, Jacqueline R., Lee, Seung Hun, Koh, Jung-Min, Lohmander, L. Stefan, Ho-Pham, Lan T., Nguyen, Tuan V., Eisman, John A., Woo, Jean, Leung, Ping-C., Loughlin, John, Zeggini, Eleftheria, Christiansen, Claus, Rivadeneira, Fernando, van Meurs, Joyce, Uitterlinden, Andre G., Mogensen, Brynjolfur, Jonsson, Helgi, Ingvarsson, Thorvaldur, Sigurdsson, Gunnar, Benediktsson, Rafn, Sulem, Patrick, Jonsdottir, Ingileif, Masson, Gisli, Holm, Hilma, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Kari

“…The original HTML version of this Article was updated shortly after publication to add links to the Peer Review file. In addition, affiliations 16 and 17…”
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Sequence variant at 4q25 near PITX2 associates with appendicitis by Kristjansson, Ragnar P., Benonisdottir, Stefania, Oddsson, Asmundur, Galesloot, Tessel E., Thorleifsson, Gudmar, Aben, Katja K., Davidsson, Olafur B., Jonsson, Stefan, Arnadottir, Gudny A., Jensson, Brynjar O., Walters, G. Bragi, Sigurdsson, Jon K., Sigurdsson, Snaevar, Holm, Hilma, Arnar, David O., Thorgeirsson, Gudmundur, Alexiusdottir, Kristin, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., Jonsson, Thorvaldur, Gudbjartsson, Daniel F., Rafnar, Thorunn, Sulem, Patrick, Stefansson, Kari

“…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…”
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Studying the genetics of participation using footprints left on the ascertained genotypes by Benonisdottir, Stefania, Kong, Augustine

“…The trait of participating in a genetic study probably has a genetic component. Identifying this component is difficult as we cannot compare genetic…”
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A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin by Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari

“…The cytokine erythropoietin (EPO), signalling through the EPO receptor (EPO-R), is essential for the formation of red blood cells. We performed a genome-wide…”
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Deconstructing the sources of genotype-phenotype associations in humans by Young, Alexander I, Benonisdottir, Stefania, Przeworski, Molly, Kong, Augustine

“…Efforts to link variation in the human genome to phenotypes have progressed at a tremendous pace in recent decades. Most human traits have been shown to be…”
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