1. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Issue 1 (December 2018) Authors: Arnadottir, Gudny; Norddahl, Gudmundur; Gudmundsdottir, Steinunn; Agustsdottir, Arna; Sigurdsson, Snaevar; Jensson, Brynjar; Bjarnadottir, Kristbjorg; Theodors, Fannar; Benonisdottir, Stefania; Ivarsdottir, Erna; Oddsson, Asmundur; Kristjansson, Ragnar; Sulem, Gerald; Alexandersson, Kristjan; Jul... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Sequence variants associating with urinary biomarkers. (24th November 2018) Authors: Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdottir, Snaedis; Ivarsdottir, Erna V; Tragante, Vinicius; Gunnarsson, Bja... Journal: Human molecular genetics Issue: Volume 28:Number 7(2019) Page Start: 1199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗