1. A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. Issue 3 (April 2016) Authors: Banihani, Rudaina; Baskin, Berivan; Halliday, William; Kobayashi, Jeff; Kawamura, Anne; McAdam, Laura; Ray, Peter N.; Yoon, Grace Journal: Journal of developmental and behavioral pediatrics Issue: Volume 37:Issue 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic study of hereditary spastic paraplegia in Canada. (February 2017) Authors: Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Di... Journal: Neurology Issue: Volume 3:Number 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Complex genomic rearrangement in SPG11 due to a DNA replication‐based mechanism. Issue 12 (30th October 2017) Authors: Baskin, Berivan; Kalia, Lorraine V.; Banwell, Brenda L.; Ray, Peter N.; Yoon, Grace Journal: Movement disorders Issue: Volume 32:Issue 12(2017) Page Start: 1792 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms. Issue 6 (15th September 2014) Authors: Baskin, Berivan; Stavropoulos, Dimitri J.; Rebeiro, Paige A.; Orr, Jennifer; Li, Martin; Steele, Leslie; Marshall, Christian R.; Lemire, Edmond G.; Boycott, Kym M.; Gibson, William; Ray, Peter N. Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 6(2014:Nov.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. (22nd June 2015) Authors: Chaudhry, Ayeshah; Sabatini, Peter; Han, Liping; Ray, Peter N.; Forrest, Christopher; Bowdin, Sarah Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Issue 7 (28th April 2016) Authors: Günther, Sven; Elert‐Dobkowska, Ewelina; Soehn, Anne S.; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Hübner, Christian A.; Ray, Peter N.; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 703 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues12. Issue 1 (13th December 2012) Authors: Inbar‐Feigenberg, Michal; Choufani, Sanaa; Cytrynbaum, Cheryl; Chen, Yi‐An; Steele, Leslie; Shuman, Cheryl; Ray, Peter N.; Weksberg, Rosanna Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Issue 8 (24th May 2013) Authors: Girdea, Marta; Dumitriu, Sergiu; Fiume, Marc; Bowdin, Sarah; Boycott, Kym M.; Chénier, Sébastien; Chitayat, David; Faghfoury, Hanna; Meyn, M. Stephen; Ray, Peter N.; So, Joyce; Stavropoulos, Dimitri J.; Brudno, Michael Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. RNAseq analysis for the diagnosis of muscular dystrophy. Issue 1 (8th December 2015) Authors: Gonorazky, Hernan; Liang, Minggao; Cummings, Beryl; Lek, Monkol; Micallef, Johann; Hawkins, Cynthia; Basran, Raveen; Cohn, Ronald; Wilson, Michael D.; MacArthur, Daniel; Marshall, Christian R.; Ray, Peter N.; Dowling, James J. Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 1(2016) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care. Issue 5 (7th April 2014) Authors: Bowdin, Sarah; Ray, Peter N.; Cohn, Ronald D.; Meyn, M. Stephen Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗