A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

por 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
Publicado 2018

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

por Sigurgeir Olafsson, Pernilla Stridh, Steffan Daniël Bos, Andres Ingason, Jack Euesden, Patrick Sulem, Gudmar Thorleifsson, Omar Gustafsson, Ari Johannesson, Arni J. Geirsson, Arni V. Thorsson, Bardur Sigurgeirsson, Bjorn Runar Ludviksson, Elias Olafsson, Helga Kristjansdottir, Jon G. Jonasson, Jon Hjaltalin Olafsson, Kjartan B. Orvar, Rafn Benediktsson, Ragnar Bjarnason, Sjofn Kristjansdottir, Thorarinn Gislason, Trausti Valdimarsson, Evgenia Mikaelsdottir, Snaevar Sigurdsson, Stefan Jonsson, Thorunn Rafnar, Dag Aarsland, Srdjan Djurovic, Tormod Fladby, Gun Peggy Knudsen, Elisabeth G. Celius, Kjell-Morten Myhr, Gerdur Grondal, Kristjan Steinsson, Helgi Valdimarsson, Sigurdur Bjornsson, Unnur S. Bjornsdottir, Einar S Bjornsson, Bjorn Nilsson, Ole A. Andreassen, Lars Alfredsson, Jan Hillert, Ingrid Skelton Kockum, Gisli Masson, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Hreinn Stefansson, Haukur Hjaltason, Hanne F. Harbo, Tomas Olsson, Ingileif Jonsdottir, Kari Stefansson
Publicado 2017