1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017) Authors: Gold, Wendy A.; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G.; Worgan, Lisa; Hübner, Christian A.; Christodoulou, John; Adès, Lesley C. Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover, Volume 41, Issue 10. Issue 10 (28th September 2020) Authors: Kaur, Simranpreet; Van Bergen, Nicole J.; Verhey, Kristen J.; Nowell, Cameron J.; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J.; Massey, Sean; Sonawane, Rhe... Journal: Human mutation Issue: Volume 41:Issue 10(2020) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). (20th October 2020) Authors: Kaur, Simranpreet; Van Bergen, Nicole J.; Ben-Zeev, Bruria; Leonardi, Emanuela; Tan, Tiong Y.; Coman, David; Kamien, Benjamin; White, Susan M.; St John, Miya; Phelan, Dean; Rigbye, Kristin; Lim, Sze Chern; Torres, Michelle C.; Marty, Melanie; Savva, Elena; Zhao, Teresa; Massey, Sean; Murgia, Ales... Journal: Journal of genetics and genomics Issue: Volume 47:Number 10(2020) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Issue 10 (22nd July 2020) Authors: Kaur, Simranpreet; Van Bergen, Nicole J.; Verhey, Kristen J.; Nowell, Cameron J.; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J.; Massey, Sean; Sonawane, Rhe... Journal: Human mutation Issue: Volume 41:Issue 10(2020) Page Start: 1761 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The neuroprotective effects of estrogen and estrogenic compounds in spinal cord injury. (March 2023) Authors: Shvetcov, Artur; Ruitenberg, Marc J.; Delerue, Fabien; Gold, Wendy A.; Brown, David A.; Finney, Caitlin A. Journal: Neuroscience and biobehavioral reviews Issue: Volume 146(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗