Multi-nucleotide de novo Mutations in Humans. by Søren Besenbacher, Patrick Sulem, Agnar Helgason, Hannes Helgason, Helgi Kristjansson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Olafur Th Magnusson, Unnur Thorsteinsdottir, Gisli Masson, Augustine Kong, Daniel F Gudbjartsson, Kari Stefansson

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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters by Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson

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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA by Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson

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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase by Ragnar P. Kristjansson, Asmundur Oddsson, Hannes Helgason, Gardar Sveinbjornsson, Gudny A. Arnadottir, Brynjar O. Jensson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, G. Bragi Walters, Gerald Sulem, Arna Oskarsdottir, Stefania Benonisdottir, Olafur B. Davidsson, Gisli Masson, Olafur Th Magnusson, Hilma Holm, Olof Sigurdardottir, Ingileif Jonsdottir, Gudmundur I. Eyjolfsson, Isleifur Olafsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

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The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis by Erna V. Ivarsdottir, Hilma Holm, Stefania Benonisdottir, Thorhildur Olafsdottir, Gardar Sveinbjornsson, Gudmar Thorleifsson, Hannes P. Eggertsson, Gisli H. Halldorsson, Kristjan E. Hjorleifsson, Pall Melsted, Arnaldur Gylfason, Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Thorhildur Juliusdottir, Lilja Stefansdottir, Vinicius Tragante, Bjarni V. Halldorsson, Hannes Petersen, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Patrick Sulem, Ingibjorg Hinriksdottir, Ingileif Jonsdottir, Daniel F. Gudbjartsson, Kari Stefansson

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MAP1B mutations cause intellectual disability and extensive white matter deficit by G. Bragi Walters, Omar Gustafsson, Gardar Sveinbjornsson, Valgerdur K. Eiriksdottir, Arna B. Agustsdottir, Gudrun A. Jonsdottir, Stacy Steinberg, Arni F. Gunnarsson, Magnus I. Magnusson, Unnur Unnsteinsdottir, Amy L. Lee, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Aslaug Jonasdottir, Astros Skuladottir, Lina Jonsson, Muhammad S. Nawaz, Patrick Sulem, Mike Frigge, Andres Ingason, Askell Love, Gudmundur L. Norddhal, Mark Zervas, Daniel F. Gudbjartsson, Magnus O. Ulfarsson, Evald Saemundsen, Hreinn Stefansson, Kari Stefansson

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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy by Gyda Bjornsdottir, Erna V. Ivarsdottir, Kristbjorg Bjarnadottir, Stefania Benonisdottir, Sandra Sif Gylfadottir, Gudny A. Arnadottir, Rafn Benediktsson, Gisli Hreinn Halldorsson, Anna Helgadottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Anna Margret Kristinsdottir, Olafur Th. Magnusson, Gisli Masson, Pall Melsted, Thorunn Rafnar, Asgeir Sigurdsson, Gunnar Sigurdsson, Astros Skuladottir, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Gudmundur Thorgeirsson, Gudmar Thorleifsson, Arnor Vikingsson, Daniel F. Gudbjartsson, Hilma Holm, Hreinn Stefansson, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Patrick Sulem, Thorgeir E. Thorgeirsson, Kari Stefansson

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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene by Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

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Genetic architecture of band neutrophil fraction in Iceland by Gudjon R. Oskarsson, Magnus K. Magnusson, Asmundur Oddsson, Brynjar O. Jensson, Run Fridriksdottir, Gudny A. Arnadottir, Hildigunnur Katrinardottir, Solvi Rognvaldsson, Gisli H. Halldorsson, Gardar Sveinbjornsson, Erna V. Ivarsdottir, Lilja Stefansdottir, Egil Ferkingstad, Kristjan Norland, Vinicius Tragante, Jona Saemundsdottir, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Svanhvit Sigurjonsdottir, Karen O. Petursdottir, Olafur B. Davidsson, Thorunn Rafnar, Hilma Holm, Isleifur Olafsson, Pall T. Onundarson, Brynjar Vidarsson, Olof Sigurdardottir, Gisli Masson, Daniel F. Gudbjartsson, Ingileif Jonsdottir, Gudmundur L. Norddahl, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

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

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Sequence variants influencing the regulation of serum IgG subclass levels by Thorunn A. Olafsdottir, Gudmar Thorleifsson, Aitzkoa Lopez de Lapuente Portilla, Stefan Jonsson, Lilja Stefansdottir, Abhishek Niroula, Aslaug Jonasdottir, Hannes P. Eggertsson, Gisli H. Halldorsson, Gudny E. Thorlacius, Asgeir O. Arnthorsson, Unnur S. Bjornsdottir, Folkert W. Asselbergs, Arthur E. H. Bentlage, Gudmundur I. Eyjolfsson, Steinunn Gudmundsdottir, Kristbjorg Gunnarsdottir, Bjarni V. Halldorsson, Hilma Holm, Bjorn R. Ludviksson, Pall Melsted, Gudmundur L. Norddahl, Isleifur Olafsson, Saedis Saevarsdottir, Olof Sigurdardottir, Asgeir Sigurdsson, Robin Temming, Pall T. Önundarson, Unnur Thorsteinsdottir, Gestur Vidarsson, Patrick Sulem, Daniel F. Gudbjartsson, Ingileif Jonsdottir, Björn Nilsson, Kari Stefansson

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A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. by Dirk Smith, Hannes Helgason, Patrick Sulem, Unnur Steina Bjornsdottir, Ai Ching Lim, Gardar Sveinbjornsson, Haruki Hasegawa, Michael Brown, Randal R Ketchem, Monica Gavala, Logan Garrett, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Olafur T Magnusson, Gudmundur I Eyjolfsson, Isleifur Olafsson, Pall Torfi Onundarson, Olof Sigurdardottir, David Gislason, Thorarinn Gislason, Bjorn Runar Ludviksson, Dora Ludviksdottir, H Marike Boezen, Andrea Heinzmann, Marcus Krueger, Celeste Porsbjerg, Tarunveer S Ahluwalia, Johannes Waage, Vibeke Backer, Klaus A Deichmann, Gerard H Koppelman, Klaus Bønnelykke, Hans Bisgaard, Gisli Masson, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, James A Johnston, Ingileif Jonsdottir, Kari Stefansson

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Molecular benchmarks of a SARS-CoV-2 epidemic by Hakon Jonsson, Olafur T. Magnusson, Pall Melsted, Jonas Berglund, Arna B. Agustsdottir, Berglind Eiríksdottir, Run Fridriksdottir, Elisabet Eir Garðarsdottir, Gudmundur Georgsson, Olafia S. Gretarsdottir, Kjartan R. Guðmundsson, Thora Rosa Gunnarsdottir, Hannes Eggertsson, Arnaldur Gylfason, Hilma Holm, Brynjar O. Jensson, Aslaug Jonasdottir, Frosti Jonsson, Kamilla S. Josefsdottir, Marianna Thordardottir, Karl G. Kristinsson, Þórður Kristjánsson, Droplaug N. Magnusdottir, Louise le Roux, Jona Saemundsdottir, Asgeir Sigurdsson, Gudrun Sigmundsdottir, Gardar Sveinbjornsson, Solvi Rognvaldsson, Ogmundur Eiriksson, Magnus Karl Magnusson, Kristin Eva Sveinsdottir, Maney Sveinsdottir, Emil Aron Thorarensen, Bjarni Thorbjornsson, Arthur Löve, Gudmundur L. Norddahl, Ingileif Jonsdottir, Patrick Sulem, Gisli Masson, Alma Moller, Thorolfur Gudnason, Mar Kristjansson, Agnar Helgason, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Kari Stefansson

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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. by Simon N Stacey, Patrick Sulem, Carlo Zanon, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Agnar Helgason, Aslaug Jonasdottir, Soren Besenbacher, Jelena P Kostic, James D Fackenthal, Dezheng Huo, Clement Adebamowo, Temidayo Ogundiran, Janet E Olson, Zachary S Fredericksen, Xianshu Wang, Maxime P Look, Anieta M Sieuwerts, John W M Martens, Isabel Pajares, Maria D Garcia-Prats, Jose M Ramon-Cajal, Ana de Juan, Angeles Panadero, Eugenia Ortega, Katja K H Aben, Sita H Vermeulen, Fatemeh Asadzadeh, K C Anton van Engelenburg, Sara Margolin, Chen-Yang Shen, Pei-Ei Wu, Asta Försti, Per Lenner, Roger Henriksson, Robert Johansson, Kerstin Enquist, Göran Hallmans, Thorvaldur Jonsson, Helgi Sigurdsson, Kristin Alexiusdottir, Julius Gudmundsson, Asgeir Sigurdsson, Michael L Frigge, Larus Gudmundsson, Kristleifur Kristjansson, Bjarni V Halldorsson, Unnur Styrkarsdottir, Jeffrey R Gulcher, Kari Hemminki, Annika Lindblom, Lambertus A Kiemeney, Jose I Mayordomo, John A Foekens, Fergus J Couch, Olufunmilayo I Olopade, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Thorunn Rafnar, Oskar T Johannsson, Kari Stefansson

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