1. 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) ↗
2. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. (23rd February 2023) Authors: Massey, Sean; Guo, Yiran; Riley, Lisa G.; Van Bergen, Nicole J.; Sandaradura, Sarah A.; McCusker, Elizabeth; Tchan, Michel; Thauvin-Robinet, Christel; Thomas, Quentin; Moreau, Thibault; Davis, Mark; Smits, Daphne; Mancini, Grazia M.S.; Hakonarson, Hakon; Cooper, Sandra; Christodoulou, John Journal: Neurology Issue: Volume 9:Number 1(2023) Page Start: 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. Functional analysis of RYR1 variants linked to malignant hyperthermia. Issue 2 (2nd April 2016) Authors: Stephens, Jeremy; Schiemann, Anja H.; Roesl, Cornelia; Miller, Dorota; Massey, Sean; Pollock, Neil; Bulger, Terasa; Stowell, Kathryn Journal: Temperature Issue: Volume 3:Issue 2(2016) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Issue 3 (7th September 2021) Authors: Van Bergen, Nicole J; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗