1. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Issue 2 (30th October 2019) Authors: Powis, Zöe; Towne, Meghan C.; Hagman, Kelly D.F.; Blanco, Kirsten; Palmaer, Erika; Castro, Andrew; Sajan, Samin A.; Radtke, Kelly; Feyma, Timothy J.; Juliette, Kali; Tang, Sha; Sidiropoulos, Christos Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. (November 2018) Authors: Synofzik, Matthis; Helbig, Katherine; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G.; Gburek-Augustat, Janina; Züchner, Stephan; Krägeloh-Mann, Ingeborg; Baets, Jonathan; Jonghe, Peter; Bauer, Peter; Chen, S.; Sc... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. When moments matter: Finding answers with rapid exome sequencing. Issue 2 (24th December 2019) Authors: Powis, Zöe; Farwell Hagman, Kelly D.; Blanco, Kirsten; Au, Margaret; Graham, John M.; Singh, Kathryn; Gallant, Natalie; Randolph, Linda M.; Towne, Meghan; Hunter, Jesse; Shinde, Deepali N.; Palmaer, Erika; Schoenfeld, Brian; Tang, Sha Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗