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
Published 2017-10-01

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
Published 2016-02-01

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
Published 2017-11-01

Sequence variant at 4q25 near PITX2 associates with appendicitis

by Ragnar P. Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E. Galesloot, Gudmar Thorleifsson, Katja K. Aben, Olafur B. Davidsson, Stefan Jonsson, Gudny A. Arnadottir, Brynjar O. Jensson, G. Bragi Walters, Jon K. Sigurdsson, Snaevar Sigurdsson, Hilma Holm, David O. Arnar, Gudmundur Thorgeirsson, Kristin Alexiusdottir, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Lambertus A. Kiemeney, Thorvaldur Jonsson, Daniel F. Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Kari Stefansson
Published 2017-06-01

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
Published 2021-06-01

Epigenetic and genetic components of height regulation

by Stefania Benonisdottir, Asmundur Oddsson, Agnar Helgason, Ragnar P. Kristjansson, Gardar Sveinbjornsson, Arna Oskarsdottir, Gudmar Thorleifsson, Olafur B. Davidsson, Gudny A. Arnadottir, Gerald Sulem, Brynjar O. Jensson, Hilma Holm, Kristjan F. Alexandersson, Laufey Tryggvadottir, G. Bragi Walters, Sigurjon A. Gudjonsson, Lucas D. Ward, Jon K. Sigurdsson, Paul D. Iordache, Michael L. Frigge, Thorunn Rafnar, Augustine Kong, Gisli Masson, Hannes Helgason, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Kari Stefansson
Published 2016-11-01

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

by Egil Ferkingstad, Asmundur Oddsson, Solveig Gretarsdottir, Stefania Benonisdottir, Gudmar Thorleifsson, Aimee M. Deaton, Stefan Jonsson, Olafur A. Stefansson, Gudmundur L. Norddahl, Florian Zink, Gudny A. Arnadottir, Bjarni Gunnarsson, Gisli H. Halldorsson, Anna Helgadottir, Brynjar O. Jensson, Ragnar P. Kristjansson, Gardar Sveinbjornsson, David A. Sverrisson, Gisli Masson, Isleifur Olafsson, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Hilma Holm, Ingileif Jonsdottir, Sigurdur Olafsson, Thora Steingrimsdottir, Thorunn Rafnar, Einar S. Bjornsson, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Kari Stefansson
Published 2018-11-01

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
Published 2018-10-01

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
Published 2021-06-01

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2021-06-01