1. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019) Authors: Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete... Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020) Authors: Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 15 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) ↗
4. 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) ↗