1. 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) ↗
2. Re: Best et al., 'Unlocking the potential of the UK 100, 000 Genomes Project – Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'. Issue 11 (21st July 2022) Authors: Brown, Matthew A.; Wigley, Christopher; Walker, Susan; Lancaster, Deborah; Rendon, Augusto; Scott, Richard Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. (24th April 2018) Authors: Turnbull, Clare; Scott, Richard H; Thomas, Ellen; Jones, Louise; Murugaesu, Nirupa; Pretty, Freya Boardman; Halai, Dina; Baple, Emma; Craig, Clare; Hamblin, Angela; Henderson, Shirley; Patch, Christine; O'Neill, Amanda; Devereaux, Andrew; Smith, Katherine; Martin, Antonio Rueda; Sosinsky, Alona; ... Journal: BMJ Issue: Volume 361(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females. Issue 1 (17th October 2017) Authors: Fiorentino, Alessia; Fujinami, Kaoru; Arno, Gavin; Robson, Anthony G.; Pontikos, Nikolas; Arasanz Armengol, Monica; Plagnol, Vincent; Hayashi, Takaaki; Iwata, Takeshi; Parker, Matthew; Fowler, Tom; Rendon, Augusto; Gardner, Jessica C.; Henderson, Robert H.; Cheetham, Michael E.; Webster, Andrew R... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. Issue 12 (19th June 2014) Authors: Bawazir, Waleed M.; Flatt, Joanna F.; Wallis, Jonathan P.; Rendon, Augusto; Cardigan, Rebecca A.; New, Helen V.; Wiltshire, Michael; Page, Lizanne; Chapman, Catherine E.; Stewart, Gordon W.; Bruce, Lesley J. Journal: Transfusion Issue: Volume 54:Issue 12(2014) Page Start: 3043 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗