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

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

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