1. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Issue 1 (December 2015) Authors: Li, Yun; van Setten, Jessica; Verma, Shefali; Lu, Yontao; Holmes, Michael; Gao, Hui; Lek, Monkol; Nair, Nikhil; Chandrupatla, Hareesh; Chang, Baoli; Karczewski, Konrad; Wong, Chanel; Mohebnasab, Maede; Mukhtar, Eyas; Phillips, Randy; Tragante, Vinicius; Hou, Cuiping; Steel, Laura; Lee, Takesha; G... Journal: Genome medicine Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Human disease genomics: from variants to biology. Issue 1 (December 2017) Authors: McCarthy, Mark; MacArthur, Daniel Journal: Genome biology Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenome-wide association studies across large population cohorts support drug target validation. Issue 1 (December 2018) Authors: Diogo, Dorothée; Tian, Chao; Franklin, Christopher; Alanne-Kinnunen, Mervi; March, Michael; Spencer, Chris; Vangjeli, Ciara; Weale, Michael; Mattsson, Hannele; Kilpeläinen, Elina; Sleiman, Patrick; Reilly, Dermot; McElwee, Joshua; Maranville, Joseph; Chatterjee, Arnaub; Bhandari, Aman; Nguyen, Kh... 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) ↗
4. Reply to 'Selective effects of heterozygous protein-truncating variants'. (January 2019) Authors: Cassa, Christopher; Weghorn, Donate; Balick, Daniel; Jordan, Daniel; Nusinow, David; Samocha, Kaitlin; O'Donnell-Luria, Anne; MacArthur, Daniel; Daly, Mark; Beier, David; Sunyaev, Shamil Journal: Nature genetics Issue: Volume 51:Number 1(2019) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. RNAseq analysis for the diagnosis of muscular dystrophy. Issue 1 (8th December 2015) Authors: Gonorazky, Hernan; Liang, Minggao; Cummings, Beryl; Lek, Monkol; Micallef, Johann; Hawkins, Cynthia; Basran, Raveen; Cohn, Ronald; Wilson, Michael D.; MacArthur, Daniel; Marshall, Christian R.; Ray, Peter N.; Dowling, James J. Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 1(2016) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?. Issue 1 (December 2016) Authors: Mégarbané, André; Al-Ali, Rashid; Choucair, Nancy; Lek, Monko; Wang, Ena; Ladjimi, Moncef; Rose, Catherine; Hobeika, Remy; Macary, Yvette; Temanni, Ramzi; Jithesh, Puthen; Chouchane, Aouatef; Sastry, Konduru; Thomas, Remy; Tomei, Sara; Liu, Wei; Marincola, Francesco; MacArthur, Daniel; Chouchane,... Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗