Search Results - "þorsteinsdóttir, Unnur"

Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis by Helgadottir, Anna, Thorleifsson, Gudmar, Snaebjarnarson, Audunn, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Björnsson, Eyþór, Steinthorsdottir, Valgerdur, Gretarsdottir, Solveig, Helgason, Hannes, Saemundsdottir, Jona, Olafsson, Isleifur, Thune, Jens Jakob, Raja, Anna Axelsson, Ghouse, Jonas, Olesen, Morten Salling, Christensen, Alex, Jacobsen, Rikke Louise, Dowsett, Joseph, Bruun, Mie Topholm, Nielsen, Kaspar, Knowlton, Kirk, Nadauld, Lincoln, Benediktsson, Rafn, Erikstrup, Christian, Pedersen, Ole B, Banasik, Karina, Brunak, Søren, Bundgaard, Henning, Ostrowski, Sisse R, Sulem, Patrick, Arnar, David O, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Kari, Holm, Hilma

“…The causal contribution of apolipoprotein B (apoB) particles to coronary artery disease (CAD) is established. We examined whether this atherogenic contribution…”
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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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Design of experiments for development and optimization of a liquid chromatography coupled to tandem mass spectrometry bioanalytical assay by Thorsteinsdóttir, Unnur Arna, Thorsteinsdóttir, Margrét

“…Design of experiments (DoE) is a valuable tool for the optimization of quantitative bioanalytical methods utilizing liquid chromatography coupled to tandem…”
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Characterizing mutagenic effects of recombination through a sequence-level genetic map by Halldorsson, Bjarni V, Palsson, Gunnar, Stefansson, Olafur A, Jonsson, Hakon, Hardarson, Marteinn T, Eggertsson, Hannes P, Gunnarsson, Bjarni, Oddsson, Asmundur, Halldorsson, Gisli H, Zink, Florian, Gudjonsson, Sigurjon A, Frigge, Michael L, Thorleifsson, Gudmar, Sigurdsson, Asgeir, Stacey, Simon N, Sulem, Patrick, Masson, Gisli, Helgason, Agnar, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Stefansson, Kari

“…Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on…”
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Rate of de novo mutations and the importance of father’s age to disease risk by Kong, Augustine, Frigge, Michael L., Masson, Gisli, Besenbacher, Soren, Sulem, Patrick, Magnusson, Gisli, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Wong, Wendy S. W., Sigurdsson, Gunnar, Walters, G. Bragi, Steinberg, Stacy, Helgason, Hannes, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Helgason, Agnar, Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Stefansson, Kari

“…Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here…”
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Multi-nucleotide de novo Mutations in Humans by Besenbacher, Søren, Sulem, Patrick, Helgason, Agnar, Helgason, Hannes, Kristjansson, Helgi, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Gudbjartsson, Daniel F, Stefansson, Kari

“…Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of…”
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Identification of a large set of rare complete human knockouts by Sulem, Patrick, Helgason, Hannes, Oddson, Asmundur, Stefansson, Hreinn, Gudjonsson, Sigurjon A, Zink, Florian, Hjartarson, Eirikur, Sigurdsson, Gunnar Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur Th, Kong, Augustine, Helgason, Agnar, Holm, Hilma, Thorsteinsdottir, Unnur, Masson, Gisli, Gudbjartsson, Daniel F, Stefansson, Kari

“…Patrick Sulem, Hannes Helgason and colleagues identify homozygous and compound heterozygous loss-of-function variants of minor allele frequency <2% in 7.7% of…”
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Field evidence of the interplay between rift and transform structures in the Krafla geothermal area, N-Iceland by Liotta, Domenico, Brogi, Andrea, Árnadóttir, Sigurveig, Ágústsson, Kristján, Thorsteinsdóttir, Unnur

“…•Relation between geological structures and geothermal resources.•Location of geothermal resources is controlled by fault interaction.•Integration between…”
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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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Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma by Thorsteinsdottir, Unnur A., Runolfsdottir, Hrafnhildur L., Eiriksson, Finnur F., Agustsdottir, Inger M. Sch, Edvardsson, Vidar O., Palsson, Runolfur, Thorsteinsdottir, Margret

“…•APRT deficiency is a rare purine metabolic disorder, characterized by kidney stones and progressive chronic kidney disease.•A UPLC-MS/MS clinical assay was…”
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Fine-scale recombination rate differences between sexes, populations and individuals by Gudbjartsson, Daniel F, Gudjonsson, Sigurjon A, Kristinsson, Kari Th, Helgason, Agnar, Gylfason, Arnaldur, Sigurdsson, Asgeir, Masson, Gisli, Stefansson, Kari, Frigge, Michael L, Walters, G. Bragi, Thorsteinsdottir, Unnur, Thorleifsson, Gudmar, Kong, Augustine, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg

“…Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from…”
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Loss-of-function variants in ATM confer risk of gastric cancer by Helgason, Hannes, Rafnar, Thorunn, Olafsdottir, Halla S, Jonasson, Jon G, Sigurdsson, Asgeir, Stacey, Simon N, Jonasdottir, Adalbjorg, Tryggvadottir, Laufey, Alexiusdottir, Kristin, Haraldsson, Asgeir, le Roux, Louise, Gudmundsson, Julius, Johannsdottir, Hrefna, Oddsson, Asmundur, Gylfason, Arnaldur, Magnusson, Olafur T, Masson, Gisli, Jonsson, Thorvaldur, Skuladottir, Halla, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari

“…Hannes Helgason, Kari Stefansson and colleagues report an association study of gastric cancer susceptibility based on whole-genome sequencing in the Icelandic…”
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The rate of meiotic gene conversion varies by sex and age by Halldorsson, Bjarni V, Hardarson, Marteinn T, Kehr, Birte, Styrkarsdottir, Unnur, Gylfason, Arnaldur, Thorleifsson, Gudmar, Zink, Florian, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sulem, Patrick, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F, Stefansson, Kari

“…Bjarni Halldorsson, Kari Stefansson and colleagues use SNP array and whole-genome sequencing data to estimate the meiotic gene conversion rate ( G ) in humans…”
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Physical and neurobehavioral determinants of reproductive onset and success by Day, Felix R, Helgason, Hannes, Chasman, Daniel I, Rose, Lynda M, Loh, Po-Ru, Scott, Robert A, Helgason, Agnar, Kong, Augustine, Masson, Gisli, Magnusson, Olafur Th, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Buring, Julie E, Ridker, Paul M, Sulem, Patrick, Stefansson, Kari, Ong, Ken K, Perry, John R B

“…John Perry, Ken Ong and colleagues perform a genome-wide association study for reproductive ability, behavior and success to determine underlying genetic…”
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Multiple Genetic Loci for Bone Mineral Density and Fractures by Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G. Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Center, Jacqueline R, Nguyen, Tuan V, Bagger, Yu, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari

“…This study implicates five genetic loci in bone mineral density. Two of these loci are new; three implicate genes known to be involved in bone remodeling, such…”
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Detection of sharing by descent, long-range phasing and haplotype imputation by Kong, Augustine, Stefansson, Kari, Masson, Gisli, Frigge, Michael L, Gylfason, Arnaldur, Zusmanovich, Pasha, Thorleifsson, Gudmar, Olason, Pall I, Ingason, Andres, Steinberg, Stacy, Rafnar, Thorunn, Sulem, Patrick, Mouy, Magali, Jonsson, Frosti, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Hreinn

“…Augustine Kong and colleagues describe an approach for phasing SNPs into long haplotypes spanning multiple blocks of linkage disequilibrium. The method, termed…”
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Response by Björnsson et al to Letter Regarding Article, “Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland” by Björnsson, Eythór, Thorgeirsson, Gudmundur, Helgadóttir, Anna, Gudbjartsson, Daníel F., Hólm, Hilma, Thorsteinsdóttir, Unnur, Sulem, Patrick, Stefánsson, Kári

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Several common variants modulate heart rate, PR interval and QRS duration by Holm, Hilma, Stefansson, Kari, Gudbjartsson, Daniel F, Arnar, David O, Thorleifsson, Gudmar, Thorgeirsson, Gudmundur, Stefansdottir, Hrafnhildur, Gudjonsson, Sigurjon A, Jonasdottir, Aslaug, Mathiesen, Ellisiv B, Njølstad, Inger, Nyrnes, Audhild, Wilsgaard, Tom, Hald, Erin M, Hveem, Kristian, Stoltenberg, Camilla, Løchen, Maja-Lisa, Kong, Augustine, Thorsteinsdottir, Unnur

“…Hilma Holm and colleagues report genome-wide association studies to electrocardiographic measures of heart rate, PR interval, QRS duration and QT interval…”
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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland by Björnsson, Eythór, Thorgeirsson, Guðmundur, Helgadóttir, Anna, Thorleifsson, Guðmar, Sveinbjörnsson, Garðar, Kristmundsdóttir, Snaedís, Jónsson, Hákon, Jónasdóttir, Aðalbjörg, Jónasdóttir, Áslaug, Sigurðsson, Ásgeir, Guðnason, Thórarinn, Ólafsson, Ísleifur, Sigurðsson, Emil L., Sigurðardóttir, Ólöf, Viðarsson, Brynjar, Baldvinsson, Magnús, Bjarnason, Ragnar, Danielsen, Ragnar, Matthíasson, Stefán E., Thórarinsson, Björn L., Grétarsdóttir, Sólveig, Steinthórsdóttir, Valgerður, Halldórsson, Bjarni V., Andersen, Karl, Arnar, Davíð O., Jónsdóttir, Ingileif, Guðbjartsson, Daníel F., Hólm, Hilma, Thorsteinsdóttir, Unnur, Sulem, Patrick, Stefánsson, Kári

“…Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein…”
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Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland by Norddahl, Gudmundur L., Melsted, Pall, Gunnarsdottir, Kristbjorg, Halldorsson, Gisli H., Olafsdottir, Thorunn A., Gylfason, Arnaldur, Kristjansson, Mar, Magnusson, Olafur T., Sulem, Patrick, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari

“…By the end of July 2021, the majority of the Icelandic population had received vaccination against COVID-19. In mid-July a wave of SARS-CoV-2 infections,…”
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