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. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. (November 2018) Authors: Zink, Florian; Magnusdottir, Droplaug; Magnusson, Olafur; Walker, Nicolas; Morris, Tiffany; Sigurdsson, Asgeir; Halldorsson, Gisli; Gudjonsson, Sigurjon; Melsted, Pall; Ingimundardottir, Helga; Kristmundsdottir, Snædis; Alexandersson, Kristjan; Helgadottir, Anna; Gudmundsson, Julius; Rafnar, Thor... Journal: Nature genetics Issue: Volume 50:Number 11(2018) Page Start: 1542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗