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. Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease. (23rd July 2020) Authors: Helgadottir, Anna; Thorleifsson, Gudmar; Alexandersson, Kristjan F; Tragante, Vinicius; Thorsteinsdottir, Margret; Eiriksson, Finnur F; Gretarsdottir, Solveig; Björnsson, Eythór; Magnusson, Olafur; Sveinbjornsson, Gardar; Jonsdottir, Ingileif; Steinthorsdottir, Valgerdur; Ferkingstad, Egil; Jenss... Journal: European heart journal Issue: Volume 41:Number 28(2020) Page Start: 2618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
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) ↗
5. Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies. Issue 9 (25th July 2018) Authors: Karakaya, Mert; Storbeck, Markus; Strathmann, Eike A.; Delle Vedove, Andrea; Hölker, Irmgard; Altmueller, Janine; Naghiyeva, Leyla; Schmitz‐Steinkrüger, Lea; Vezyroglou, Katharina; Motameny, Susanne; Alawbathani, Salem; Thiele, Holger; Polat, Ayse Ipek; Okur, Derya; Boostani, Reza; Karimiani, Ehs... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗