1. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. (November 2016) Authors: Domingo, Enric; Freeman-Mills, Luke; Rayner, Emily; Glaire, Mark; Briggs, Sarah; Vermeulen, Louis; Fessler, Evelyn; Medema, Jan Paul; Boot, Arnoud; Morreau, Hans; van Wezel, Tom; Liefers, Gerrit-Jan; Lothe, Ragnhild A; Danielsen, Stine A; Sveen, Anita; Nesbakken, Arild; Zlobec, Inti; Lugli, Aless... Journal: Lancet gastroenterology and hepatology Issue: Volume 1:Number 3(2016) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022) Authors: Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu... Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022) Authors: Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu... Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗