1. Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation. (22nd August 2018) Authors: Kyriakopoulos, Paulina; McNiven, Vanda; Carter, Melissa T.; Humphreys, Peter; Dyment, David; Fantaneanu, Tadeu A. Journal: Child neurology open Issue: Volume 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022) Authors: Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant. (January 2023) Authors: Reyes, Nikolai Gil D.; Di Luca, Daniel G.; McNiven, Vanda; Lang, Anthony E. Journal: Parkinsonism & related disorders Issue: Volume 106(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Isolated Dystonia as an Initial Presentation of GDAP2‐Related Disorder. Issue 4 (1st March 2023) Authors: Di Luca, Daniel G.; Wubuli, Dilinuer; McNiven, Vanda; Lang, Anthony E. Journal: Movement disorders clinical practice Issue: Volume 10:Issue 4(2023) Page Start: 710 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Issue 7 (16th May 2021) Authors: Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto‐González, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles‐Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz‐Kienle, Halenur; Skladny, Heyko; Miller,... Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes. Issue 5 (17th February 2019) Authors: McNiven, Vanda; Ito, Yoko A.; Hartley, Taila; Kernohan, Kristin; Miller, Elka; Armour, Christine M. Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 837 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1. Issue 4 (14th January 2021) Authors: McNiven, Vanda; Gattini, Daniela; Siddiqui, Iram; Pelletier, Stephane; Brill, Herbert; Avitzur, Yaron; Mercimek‐Andrews, Saadet Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1091 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor. Issue 3 (March 2019) Authors: McNiven, Vanda; Mamane, Sarah; Zai, Gwyneth; So, Joyce Journal: Journal of nervous and mental disease Issue: Volume 207:Issue 3(2019:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗