1. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor. Issue 1 (23rd July 2019) Authors: Khalaf, Dina; Bell, Heather; Dale, David; Gupta, Vikas; Faghfoury, Hanna; Morel, Chantal F.; Tierens, Anne; Weinstein, David A.; Yan, Jiong; Thyagu, Santhosh; Maze, Dawn Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 37 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. Effects of Rhythmic Sensory Stimulation on Ehlers–Danlos Syndrome: A Pilot Study. (28th April 2020) Authors: Vuong, Veronica; Mosabbir, Abdullah; Paneduro, Denise; Picard, Larry; Faghfoury, Hanna; Evans, Michael; Gordon, Allan; Bartel, Lee Other Names: De Tommaso Marina Academic Editor. Journal: Pain research and management Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study. Issue 4 (24th June 2020) Authors: Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arno... Journal: Journal of medical genetics Issue: Volume 58:Issue 4(2021) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication. (May 2017) Authors: Rezazadeh, Arezoo; Borlot, Felippe; Faghfoury, Hanna; Andrade, Danielle M. Journal: Seizure Issue: Volume 48(2017) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery. Issue 4 (29th April 2022) Authors: Shickh, Salma; Hirjikaka, Daena; Clausen, Marc; Kodida, Rita; Mighton, Chloe; Reble, Emma; Sam, Jordan; Panchal, Seema; Aronson, Melyssa; Graham, Tracy; Armel, Susan Randall; Glogowski, Emily; Elser, Christine; Eisen, Andrea; Carroll, June C; Shuman, Cheryl; Seto, Emily; Baxter, Nancy N; Scheer, ... Journal: BMJ open Issue: Volume 12:Issue 4(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations. (December 2020) Authors: So, Joyce; Sriretnakumar, Venuja; Suddaby, Jessica; Barsanti-Innes, Brianna; Faghfoury, Hanna; Gofine, Timothy Journal: Canadian journal of psychiatry = Issue: Volume 65:Number 12(2020) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hyperammonemic Encephalopathy Associated with Perampanel: Case Report and Discussion. (22nd May 2021) Authors: Marques, Paula T.; Zulfiqar Ali, Quratulain; Selvarajah, Arunan; Faghfoury, Hanna; Wennberg, Richard A.; Andrade, Danielle M. Journal: Canadian journal of neurological sciences Issue: Volume 48:Number 3(2021) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. (July 2017) Authors: Tran, Christel; Patel, Jaina; Stacy, Hewson; Mamak, Eva G.; Faghfoury, Hanna; Raiman, Julian; Clarke, Joe T.R.; Blaser, Susan; Mercimek-Mahmutoglu, Saadet Journal: European journal of paediatric neurology Issue: Volume 21:Number 4(2017:Jul.) Page Start: 600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015) Authors: Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G... Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗