Search Results - "Magnússon, Ólafur Þ"

DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals by Banasik, Karina, Møller, Peter L, Techlo, Tanya R, Holm, Peter C, Walters, G Bragi, Ingason, Andrés, Rosengren, Anders, Rohde, Palle D, Kogelman, Lisette J A, Westergaard, David, Siggaard, Troels, Chmura, Piotr J, Chalmer, Mona A, Magnússon, Ólafur Þ, Þórisson, Guðmundur Á, Stefánsson, Hreinn, Guðbjartsson, Daníel F, Stefánsson, Kári, Olesen, Jes, Winther, Simon, Bøttcher, Morten, Brunak, Søren, Werge, Thomas, Nyegaard, Mette, Hansen, Thomas F

“…Allele counts of sequence variants obtained by whole genome sequencing (WGS) often play a central role in interpreting the results of genetic and genomic…”
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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study by Schlaikjær Hartwig, Tanja, Ambye, Louise, Gruhn, Jennifer R, Petersen, Jesper Friis, Wrønding, Tine, Amato, Letizia, Chi-Ho Chan, Andrew, Ji, Boyang, Bro-Jørgensen, Maiken Hemme, Werge, Lene, Petersen, Mette Marie Babiel Schmidt, Brinkmann, Clara, Ribberholt, Julie Boesgaard, Dunø, Morten, Bache, Iben, Herrgård, Markus J, Jørgensen, Finn Stener, Hoffmann, Eva R, Nielsen, Henriette Svarre, Nielsen, Henriette Svarre, Hartwig, Tanja Schlaikjær, Freiesleben, Nina la Cour, Jørgensen, Finn Stener Jørgensen, Ambye, Louise, Bliddal, Sofie, Søndergaard, Therese Juhlin, Ostrowski, Sisse Rye, Sørensen, Erik, Larsen, Margit Anita Hørup, Herregård, Markus J., Hoffmann, Eva, Gruhn, Jenny, Chan, Andy Chi Ho, Kolte, Astrid Marie, Westergaard, David, þorsteinsdóttir, Unnur, Stefánsson, Kári, Jónsson, Hákon, Magnússon, Ólafur þ., Steinthorsdottir, Valgerdur, Schmidt, Lone, Kristiansen, Karsten, Kamstrup, Pia Rørbæk, Nyegaard, Mette, Krog, Maria Christine, Løkkegaard, Ellen Christine Leth, Bredkjær, Helle Ejdrup, Wilken-Jensen, Charlotte

“…One in four pregnancies end in a pregnancy loss. Although the effect on couples is well documented, evidence-based treatments and prediction models are absent…”
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A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes by Sigurpalsdottir, Brynja D, Stefansson, Olafur A, Holley, Guillaume, Beyter, Doruk, Zink, Florian, Hardarson, Marteinn Þ, Sverrisson, Sverrir Þ, Kristinsdottir, Nina, Magnusdottir, Droplaug N, Magnusson, Olafur Þ, Gudbjartsson, Daniel F, Halldorsson, Bjarni V, Stefansson, Kari

“…Long-read sequencing can enable the detection of base modifications, such as CpG methylation, in single molecules of DNA. The most commonly used methods for…”
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Ancient genomes from Iceland reveal the making of a human population by Ebenesersdóttir, S Sunna, Sandoval-Velasco, Marcela, Gunnarsdóttir, Ellen D, Jagadeesan, Anuradha, Guðmundsdóttir, Valdís B, Thordardóttir, Elísabet L, Einarsdóttir, Margrét S, Moore, Kristjan H S, Sigurðsson, Ásgeir, Magnúsdóttir, Droplaug N, Jónsson, Hákon, Snorradóttir, Steinunn, Hovig, Eivind, Møller, Pål, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F, Werge, Thomas, Cavalleri, Gianpiero L, Gilbert, Edmund, Lalueza-Fox, Carles, Walser, 3rd, Joe W, Kristjánsdóttir, Steinunn, Gopalakrishnan, Shyam, Árnadóttir, Lilja, Magnússon, Ólafur Þ, Gilbert, M Thomas P, Stefánsson, Kári, Helgason, Agnar

“…Opportunities to directly study the founding of a human population and its subsequent evolutionary history are rare. Using genome sequence data from 27 ancient…”
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Parental influence on human germline de novo mutations in 1,548 trios from Iceland by Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari

“…Whole-genome sequencing data of 14,688 Icelanders, including 1,548 parent–offspring trios, show how the age and sex of parents affect the rate and spectrum of…”
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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia by Miranda, Marcelo, Harmuth, Florian, Bustamante, M. Leonor, Rossi, Malco, Sturm, Marc, Magnusson, Ólafur Th, Bauer, Peter, Klockgether, Thomas, Ramirez, Alfredo

“…•ATP13A2 mutations have been described in several apparently independent neurodegenerative movement disorders.•Two patients with an intermediate phenotype…”
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Characterization of a cloned subtilisin‐like serine proteinase from a psychrotrophic Vibrio species by Arnórsdóttir, Jóhanna, Smáradóttir, Rúna B., Magnússon, Ólafur Th, Thorbjarnardóttir, Sigrídur H., Eggertsson, Gudmundur, Kristjánsson, Magnús M.

“…The gene encoding a subtilisin‐like serine proteinase in the psychrotrophic Vibrio sp. PA44 has been successfully cloned, sequenced and expressed in…”
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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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Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease by Steinberg, Stacy, Stefansson, Hreinn, Jonsson, Thorlakur, Johannsdottir, Hrefna, Ingason, Andres, Helgason, Hannes, Sulem, Patrick, Magnusson, Olafur Th, Gudjonsson, Sigurjon A, Unnsteinsdottir, Unnur, Kong, Augustine, Helisalmi, Seppo, Soininen, Hilkka, Lah, James J, Aarsland, Dag, Fladby, Tormod, Ulstein, Ingun D, Djurovic, Srdjan, Sando, Sigrid B, White, Linda R, Knudsen, Gun-Peggy, Westlye, Lars T, Selbæk, Geir, Giegling, Ina, Hampel, Harald, Hiltunen, Mikko, Levey, Allan I, Andreassen, Ole A, Rujescu, Dan, Jonsson, Palmi V, Bjornsson, Sigurbjorn, Snaedal, Jon, Stefansson, Kari

“…Stacy Steinberg, Hreinn Stefansson, Thorlakur Jonsson and colleagues found that rare variants predicted to alter the function of ABCA7 are associated with risk…”
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A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease by Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th, Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari

“…Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary…”
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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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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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Parental influence on human germline de novo mutations in 1,548 trios from Iceland by Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari

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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model by Toonen, Lodewijk J A, Overzier, Maurice, Evers, Melvin M, Leon, Leticia G, van der Zeeuw, Sander A J, Mei, Hailiang, Kielbasa, Szymon M, Goeman, Jelle J, Hettne, Kristina M, Magnusson, Olafur Th, Poirel, Marion, Seyer, Alexandre, 't Hoen, Peter A C, van Roon-Mom, Willeke M C

“…Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by expansion of the polyglutamine repeat in the ataxin-3 protein…”
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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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A rare variant in MYH6 is associated with high risk of sick sinus syndrome by Holm, Hilma, Gudbjartsson, Daniel F, Sulem, Patrick, Masson, Gisli, Helgadottir, Hafdis Th, Zanon, Carlo, Magnusson, Olafur Th, Helgason, Agnar, Saemundsdottir, Jona, Gylfason, Arnaldur, Stefansdottir, Hrafnhildur, Gretarsdottir, Solveig, Matthiasson, Stefan E, Thorgeirsson, Gu∂mundur, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Stefansson, Hreinn, Werge, Thomas, Rafnar, Thorunn, Kiemeney, Lambertus A, Parvez, Babar, Muhammad, Raafia, Roden, Dan M, Darbar, Dawood, Thorleifsson, Gudmar, Walters, G Bragi, Kong, Augustine, Thorsteinsdottir, Unnur, Arnar, David O, Stefansson, Kari

“…Hilma Holm et al . report a rare missense variant MYH6 that is associated with a high risk of sick sinus syndrome in Icelanders. This heart condition is found…”
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Quinone Biogenesis: Structure and Mechanism of PqqC, the Final Catalyst in the Production of Pyrroloquinoline Quinone by Olafur Th. Magnusson, Toyama, Hirohide, Saeki, Megumi, Rojas, Ana, Reed, John C., Liddington, Robert C., Klinman, Judith P., Schwarzenbacher, Robert

“…The biosynthesis of pyrroloquinoline quinone (PQQ), a vitamin and redox cofactor of quinoprotein dehydrogenases, is facilitated by an unknown pathway that…”
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Whole genome characterization of sequence diversity of 15,220 Icelanders by Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Besenbacher, Soren, Frigge, Michael L., Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari

“…Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an…”
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