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. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. Issue 1 (December 2018) Authors: Ferkingstad, Egil; Oddsson, Asmundur; Gretarsdottir, Solveig; Benonisdottir, Stefania; Thorleifsson, Gudmar; Deaton, Aimee; Jonsson, Stefan; Stefansson, Olafur; Norddahl, Gudmundur; Zink, Florian; Arnadottir, Gudny; Gunnarsson, Bjarni; Halldorsson, Gisli; Helgadottir, Anna; Jensson, Brynjar; Kris... 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) ↗
3. Identification of Lynch syndrome risk variants in the Romanian population. Issue 12 (16th October 2018) Authors: Iordache, Paul D.; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes P.; Sulem, Patrick; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristia... Journal: Journal of cellular and molecular medicine Issue: Volume 22:Issue 12(2018) Page Start: 6068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Multiple transmissions of de novo mutations in families. (December 2018) Authors: Jónsson, Hákon; Sulem, Patrick; Arnadottir, Gudny; Pálsson, Gunnar; Eggertsson, Hannes; Kristmundsdottir, Snaedis; Zink, Florian; Kehr, Birte; Hjorleifsson, Kristjan; Jensson, Brynjar; Jonsdottir, Ingileif; Marelsson, Sigurdur; Gudjonsson, Sigurjon; Gylfason, Arnaldur; Jonasdottir, Adalbjorg; Jon... Journal: Nature genetics Issue: Volume 50:Number 12(2018) Page Start: 1674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗