Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland von 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

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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland von 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

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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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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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Identification of a large set of rare complete human knockouts von 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

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Fine-scale recombination rate differences between sexes, populations and individuals von 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

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The rate of meiotic gene conversion varies by sex and age von 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

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Diversity in non-repetitive human sequences not found in the reference genome von Kehr, Birte, Helgadottir, Anna, Melsted, Pall, Jonsson, Hakon, Helgason, Hannes, Jonasdottir, Adalbjörg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gylfason, Arnaldur, Halldorsson, Gisli H, Kristmundsdottir, Snaedis, Thorgeirsson, Gudmundur, Olafsson, Isleifur, Holm, Hilma, Thorsteinsdottir, Unnur, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F, Halldorsson, Bjarni V, 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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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase von 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

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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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Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database von Fridriksdottir, Run, Jonsson, Arnar J., Jensson, Brynjar O., Sverrisson, Kristinn O., Arnadottir, Gudny A., Skarphedinsdottir, Sigurbjorg J., Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R., Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H., Indridason, Einar P., Sigurdsson, Stefan B., Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sigurdsson, Theodor S., Sulem, Patrick, Sigurdsson, Martin, Stefansson, Kari

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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA von 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

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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters von 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

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Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis von Oskarsson, Gudjon R., Oddsson, Asmundur, Magnusson, Magnus K., Kristjansson, Ragnar P., Halldorsson, Gisli H., Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V., Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M., Lee, Amy L., Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K., Davidsson, Olafur B., Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari

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The natural history of untreated multiple sclerosis in Iceland. A total population-based 50 year prospective study von Benedikz, John, Stefánsson, Magnūs, Guðmundsson, Jūlı́us, Jónasdóttir, Aðalbjörg, Fossdal, Ragnheiður, Gulcher, Jeff, Stefánsson, Kāri

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Graphtyper enables population-scale genotyping using pangenome graphs von Eggertsson, Hannes P, Jonsson, Hakon, Kristmundsdottir, Snaedis, Hjartarson, Eirikur, Kehr, Birte, Masson, Gisli, Zink, Florian, Hjorleifsson, Kristjan E, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F, Melsted, Pall, Stefansson, Kari, Halldorsson, Bjarni V

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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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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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Differences between germline genomes of monozygotic twins von Jonsson, Hakon, Magnusdottir, Erna, Eggertsson, Hannes P., Stefansson, Olafur A., Arnadottir, Gudny A., Eiriksson, Ogmundur, Zink, Florian, Helgason, Einar A., Jonsdottir, Ingileif, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Beyter, Doruk, Steingrimsdottir, Thora, Norddahl, Gudmundur L., Magnusson, Olafur Th, Masson, Gisli, Halldorsson, Bjarni V., Thorsteinsdottir, Unnur, Helgason, Agnar, Sulem, Patrick, Gudbjartsson, Daniel F., Stefansson, Kari

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