1. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019) Authors: Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Issue 1 (11th November 2020) Authors: Helman, Guy; Compton, Alison G.; Hock, Daniella H.; Walkiewicz, Marzena; Brett, Gemma R.; Pais, Lynn; Tan, Tiong Y.; De Paoli‐Iseppi, Ricardo; Clark, Michael B.; Christodoulou, John; White, Susan M.; Thorburn, David R.; Stroud, David A.; Stark, Zornitza; Simons, Cas Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Issue 6 (11th March 2020) Authors: Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; Vanderver, Adeline; Simons, Cas Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Issue 9 (3rd August 2022) Authors: Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; Vanderver, Adeline; Simons, Cas Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗