1. A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. Issue 4 (20th March 2018) Authors: Smith, Amanda C.; Ito, Yoko; Ahmed, Afsana; Schwartzentruber, Jeremy A.; Beaulieu, Chandree L.; Aberg, Erika; Majewski, Jacek; Bulman, Dennis E.; Horsting‐Wethly, Karina; Koning, Diana Vermunt‐de; Rodenburg, Richard J.; Boycott, Kym M.; Penney, Lynette S. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 719 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene. Issue 1 (15th September 2016) Authors: Nowaczyk, Małgorzata J. M.; Huang, Lijia; Tarnopolsky, Mark; Schwartzentruber, Jeremy; Majewski, Jacek; Bulman, Dennis E.; Hartley, Taila; Boycott, Kym M. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease. (July 2015) Authors: McMillan, Hugh J.; Humphreys, Peter; Smith, Amanda; Schwartzentruber, Jeremy; Chakraborty, Pranesh; Bulman, Dennis E.; Beaulieu, Chandree L.; Majewski, Jacek; Boycott, Kym M.; Geraghty, Michael T. Journal: Journal of child neurology Issue: Volume 30:Number 8(2015:Jul.) Page Start: 1037 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia. Issue 1 (13th November 2013) Authors: Sawyer, Sarah L.; Schwartzentruber, Jeremy; Beaulieu, Chandree L.; Dyment, David; Smith, Amanda; Chardon, Jodi Warman; Yoon, Grace; Rouleau, Guy A.; Suchowersky, Oksana; Siu, Victoria; Murphy, Lisa; Hegele, Robert A.; Marshall, Christian R.; Bulman, Dennis E.; Majewski, Jacek; Tarnopolsky, Mark; ... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative. (15th August 2019) Authors: Dilliott, Allison A.; Evans, Emily C.; Farhan, Sali M.K.; Ghani, Mahdi; Sato, Christine; Zhang, Ming; McIntyre, Adam D.; Cao, Henian; Racacho, Lemuel; Robinson, John F.; Strong, Michael J.; Masellis, Mario; Bulman, Dennis E.; Rogaeva, Ekaterina; Black, Sandra E.; Finger, Elizabeth; Frank, Andrew;... Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 5(2019) Page Start: 491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identifying the Genetic Basis of Vascular Cognitive Impairment Using a Custom Designed Next-generation Sequencing-based Gene Panel. (June 2018) Authors: Dilliott, Allison A.; Farhan, Sali M.; McIntyre, Adam A.; Robinson, John F.; Kwan, Donna; Swartz, Rick; Hassan, Ayman; Dowlatshahi, Dar; Sahlas, Demetrios; Saposnik, Gustavo; Mandzia, Jennifer; Casaubon, Leanne; Strong, Michael J.; Masellis, Mario; Bulman, Dennis E.; Rogaeva, Ekaterina; Hegele, R... Journal: Atherosclerosis Issue: Volume 32(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Issue 1 (7th November 2016) Authors: Badalato, Lauren; Farhan, Sali M. K.; Dilliott, Allison A.; Bulman, Dennis E.; Hegele, Robert A.; Goobie, Sharan L. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada. (3rd May 2016) Authors: Han, Fabin; Grimes, David A.; Li, Fang; Wang, Ting; Yu, Zhe; Song, Na; Wu, Shichao; Racacho, Lemuel; Bulman, Dennis E. Journal: International journal of neuroscience Issue: Volume 126:Number 5(2016:May) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE. (26th August 2015) Authors: Richer, Julie; Daoud, Hussein; Geier, Pavel; Jarinova, Olga; Carson, Nancy; Feberova, Jana; Ben Fadel, Nadya; Unrau, Jennifer; Bareke, Eric; Khatchadourian, Karine; Bulman, Dennis E.; Majewski, Jacek; Boycott, Kym M.; Dyment, David A. Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗