Rate of de novo mutations and the importance of father’s age to disease risk
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
Published in Nature (London) (23.08.2012)
Published in Nature (London) (23.08.2012)
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Journal Article
Multi-nucleotide de novo Mutations in Humans
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
Published in PLoS genetics (15.11.2016)
Published in PLoS genetics (15.11.2016)
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Journal Article
Identification of a large set of rare complete human knockouts
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
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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Journal Article
Fine-scale recombination rate differences between sexes, populations and individuals
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
Published in Nature (London) (28.10.2010)
Published in Nature (London) (28.10.2010)
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Journal Article
The rate of meiotic gene conversion varies by sex and age
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
Published in Nature genetics (01.11.2016)
Published in Nature genetics (01.11.2016)
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Journal Article
Several common variants modulate heart rate, PR interval and QRS duration
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
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Journal Article
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
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
Published in Nature communications (03.02.2016)
Published in Nature communications (03.02.2016)
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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
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 I, Stefansson, Kari
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Journal Article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
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
Published in BMC medical genetics (14.11.2017)
Published in BMC medical genetics (14.11.2017)
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Journal Article
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
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
Published in BMC medical genetics (02.10.2017)
Published in BMC medical genetics (02.10.2017)
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Journal Article
Graphtyper enables population-scale genotyping using pangenome graphs
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
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
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
Published in Nature genetics (01.06.2021)
Published in Nature genetics (01.06.2021)
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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
Differences between germline genomes of monozygotic twins
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
Published in Nature genetics (01.01.2021)
Published in Nature genetics (01.01.2021)
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Journal Article
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
Helgadottir, Anna, Gretarsdottir, Solveig, Thorleifsson, Gudmar, Hjartarson, Eirikur, Sigurdsson, Asgeir, Magnusdottir, Audur, Jonasdottir, Aslaug, Kristjansson, Helgi, Sulem, Patrick, Oddsson, Asmundur, Sveinbjornsson, Gardar, Steinthorsdottir, Valgerdur, Rafnar, Thorunn, Masson, Gisli, Jonsdottir, Ingileif, Olafsson, Isleifur, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Daneshpour, Maryam S, Khalili, Davood, Azizi, Fereidoun, Swinkels, Dorine W, Kiemeney, Lambertus, Quyyumi, Arshed A, Levey, Allan I, Patel, Riyaz S, Hayek, Salim S, Gudmundsdottir, Ingibjorg J, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari
Published in Nature genetics (01.06.2016)
Published in Nature genetics (01.06.2016)
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Journal Article
Multiple transmissions of de novo mutations in families
Jónsson, Hákon, Sulem, Patrick, Arnadottir, Gudny A., Pálsson, Gunnar, Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Zink, Florian, Kehr, Birte, Hjorleifsson, Kristjan E., Jensson, Brynjar Ö., Jonsdottir, Ingileif, Marelsson, Sigurdur Einar, Gudjonsson, Sigurjon Axel, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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Journal Article
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Thorleifsson, Gudmar, Magnusson, Kristinn P, Sulem, Patrick, Walters, G. Bragi, Gudbjartsson, Daniel F, Stefansson, Hreinn, Jonsson, Thorlakur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stefansdottir, Gerdur, Masson, Gisli, Hardarson, Gudmundur A, Petursson, Hjorvar, Arnarsson, Arsaell, Motallebipour, Mehdi, Wallerman, Ola, Wadelius, Claes, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Jonasson, Fridbert, Stefansson, Kari
Published in Science (American Association for the Advancement of Science) (07.09.2007)
Published in Science (American Association for the Advancement of Science) (07.09.2007)
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Journal Article
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry
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
Published in Nature genetics (01.03.2016)
Published in Nature genetics (01.03.2016)
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Journal Article
Parental origin of sequence variants associated with complex diseases
Gudjonsson, Sigurjon A, Sigurdsson, Helgi, Kristinsson, Kari Th, Sigurdsson, Asgeir, Hreidarsson, Astradur B, Masson, Gisli, Ferguson-Smith, Anne C, Frigge, Michael L, Jonsson, Thorvaldur, Stacey, Simon N, Olafsson, Jon H, Benediktsdottir, Kristrun R, Gudbjartsson, Daniel F, Besenbacher, Soren, Gylfason, Arnaldur, Sigurgeirsson, Bardur, Olason, Pall I, Sverrisson, Sverrir, Stefansson, Kari, Johannsson, Oskar Th, Thorsteinsdottir, Unnur, Benediktsson, Rafn, Thorleifsson, Gudmar, Kong, Augustine, Steinthorsdottir, Valgerdur, Sulem, Patrick, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Gunnar
Published in Nature (London) (17.12.2009)
Published in Nature (London) (17.12.2009)
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