Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study von 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

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DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals von 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

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A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes von 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

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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia von Miranda, Marcelo, Harmuth, Florian, Bustamante, M. Leonor, Rossi, Malco, Sturm, Marc, Magnusson, Ólafur Th, Bauer, Peter, Klockgether, Thomas, Ramirez, Alfredo

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Parental influence on human germline de novo mutations in 1,548 trios from Iceland von 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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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy von Harris, Elizabeth, Topf, Ana, Barresi, Rita, Hudson, Judith, Powell, Helen, Tellez, James, Hicks, Debbie, Porter, Anna, Bertoli, Marta, Evangelista, Teresinha, Marini-Betollo, Chiara, Magnússon, Ólafur, Lek, Monkol, MacArthur, Daniel, Bushby, Kate, Lochmüller, Hanns, Straub, Volker

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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits von Beyter, Doruk, Ingimundardottir, Helga, Oddsson, Asmundur, Eggertsson, Hannes P., Bjornsson, Eythor, Jonsson, Hakon, Atlason, Bjarni A., Kristmundsdottir, Snaedis, Mehringer, Svenja, Hardarson, Marteinn T., Gudjonsson, Sigurjon A., Magnusdottir, Droplaug N., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Kristjansson, Ragnar P., Sverrisson, Sverrir T., Holley, Guillaume, Palsson, Gunnar, Stefansson, Olafur A., Eyjolfsson, Gudmundur, Olafsson, Isleifur, Sigurdardottir, Olof, Torfason, Bjarni, Masson, Gisli, Helgason, Agnar, Thorsteinsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Magnusson, Olafur T., Halldorsson, Bjarni V., Stefansson, Kari

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Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly von Zink, Florian, Stacey, Simon N., Norddahl, Gudmundur L., Frigge, Michael L., Magnusson, Olafur T., Jonsdottir, Ingileif, Thorgeirsson, Thorgeir E., Sigurdsson, Asgeir, Gudjonsson, Sigurjon A., Gudmundsson, Julius, Jonasson, Jon G., Tryggvadottir, Laufey, Jonsson, Thorvaldur, Helgason, Agnar, Gylfason, Arnaldur, Sulem, Patrick, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Masson, Gisli, Kong, Augustine, Stefansson, Kari

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Multi-nucleotide de novo Mutations in Humans von 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

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Loss-of-function variants in ATM confer risk of gastric cancer von 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

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Insights into imprinting from parent-of-origin phased methylomes and transcriptomes von Zink, Florian, Magnusdottir, Droplaug N., Magnusson, Olafur T., Walker, Nicolas J., Morris, Tiffany J., Sigurdsson, Asgeir, Halldorsson, Gisli H., Gudjonsson, Sigurjon A., Melsted, Pall, Ingimundardottir, Helga, Kristmundsdottir, Snædis, Alexandersson, Kristjan F., Helgadottir, Anna, Gudmundsson, Julius, Rafnar, Thorunn, Jonsdottir, Ingileif, Holm, Hilma, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Olafsson, Isleifur, Masson, Gisli, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Halldorsson, Bjarni V., Stacey, Simon N., Stefansson, Kari

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Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland von 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

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Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety von Burgin, Alex B, Gurney, Mark E, Magnusson, Olafur T, Singh, Jasbir, Witte, Pam, Staker, Bart L, Bjornsson, Jon M, Thorsteinsdottir, Margret, Hrafnsdottir, Sigrun, Hagen, Timothy, Kiselyov, Alex S, Stewart, Lance J

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Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes von Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Sulem, Patrick, Helgason, Hannes, Grarup, Niels, Sigurdsson, Asgeir, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Justesen, Johanne M, Harder, Marie N, Jørgensen, Marit E, Christensen, Cramer, Brandslund, Ivan, Sandbæk, Annelli, Lauritzen, Torsten, Vestergaard, Henrik, Linneberg, Allan, Jørgensen, Torben, Hansen, Torben, Daneshpour, Maryam S, Fallah, Mohammad-Sadegh, Hreidarsson, Astradur B, Sigurdsson, Gunnar, Azizi, Fereidoun, Benediktsson, Rafn, Masson, Gisli, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F, Pedersen, Oluf, Thorsteinsdottir, Unnur, Stefansson, Kari

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HLA class II sequence variants influence tuberculosis risk in populations of European ancestry von Sveinbjornsson, Gardar, Gudbjartsson, Daniel F, Halldorsson, Bjarni V, Kristinsson, Karl G, Gottfredsson, Magnus, Barrett, Jeffrey C, Gudmundsson, Larus J, Blondal, Kai, Gylfason, Arnaldur, Gudjonsson, Sigurjon Axel, Helgadottir, Hafdis T, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Karason, Ari, Kardum, Ljiljana Bulat, Knežević, Jelena, Kristjansson, Helgi, Kristjansson, Mar, Love, Arthur, Luo, Yang, Magnusson, Olafur T, Sulem, Patrick, Kong, Augustine, Masson, Gisli, Thorsteinsdottir, Unnur, Dembic, Zlatko, Nejentsev, Sergey, Blondal, Thorsteinn, Jonsdottir, Ingileif, Stefansson, Kari

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Rate of de novo mutations and the importance of father’s age to disease risk von 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

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Ancient genomes from Iceland reveal the making of a human population von 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

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A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation von Gudbjartsson, Daniel F, Holm, Hilma, Sulem, Patrick, Masson, Gisli, Oddsson, Asmundur, Magnusson, Olafur Th, Saemundsdottir, Jona, Helgadottir, Hafdis Th, Helgason, Hannes, Johannsdottir, Hrefna, Gretarsdottir, Solveig, Gudjonsson, Sigurjon A, Njølstad, Inger, Løchen, Maja-Lisa, Baum, Larry, Ma, Ronald C W, Sigfusson, Gunnlaugur, Kong, Augustine, Thorgeirsson, Guðmundur, Sverrisson, Jon Th, Thorsteinsdottir, Unnur, Stefansson, Kari, Arnar, David O

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Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis von Magnusson, Magnus I., Agnarsson, Bjarni A., Jonasson, Jon G., Tryggvason, Thordur, Aeffner, Famke, le Roux, Louise, Magnusdottir, Droplaug N., Gunnarsdottir, Helga S., Alexíusdóttir, Kristín K., Gunnarsdottir, Kristbjorg, Söebech, Emilia, Runarsdottir, Hjaltey, Jonsdottir, Erna M., Kristinsdottir, Bjarney S., Olafsson, Sigurgeir, Knutsdottir, Hildur, Thorsteinsdottir, Unnur, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Saemundsdottir, Jona, Magnusson, Olafur T., Norddahl, Gudmundur L., Watson, J. E. Vivienne, Rafnar, Thorunn, Lund, Sigrun H., Stefansson, Kari

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Rare mutations associating with serum creatinine and chronic kidney disease von Sveinbjornsson, Gardar, Mikaelsdottir, Evgenia, Palsson, Runolfur, Indridason, Olafur S, Holm, Hilma, Jonasdottir, Aslaug, Helgason, Agnar, Sigurdsson, Snaevar, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Magnusson, Olafur Th, Kong, Augustine, Masson, Gisli, Sulem, Patrick, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Kari

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