1. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (21st November 2013) Authors: Dyment, D.A.; Sell, E.; Vanstone, M.R.; Smith, A.C.; Garandeau, D.; Garcia, V.; Carpentier, S.; Le Trionnaire, E.; Sabourdy, F.; Beaulieu, C.L.; Schwartzentruber, J.A.; McMillan, H.J.; FORGE Canada Consortium; Majewski, J.; Bulman, D.E.; Levade, T.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar. (13th October 2013) Authors: Fahiminiya, S.; Almuriekhi, M.; Nawaz, Z.; Staffa, A.; Lepage, P.; Ali, R.; Hashim, L.; Schwartzentruber, J.; Abu Khadija, K.; Zaineddin, S.; Gamal, H.; Majewski, J.; Ben‐Omran, T. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole‐exome sequencing expands the phenotype of Hunter syndrome. (28th July 2013) Authors: Nikkel, S.M.; Huang, L.; Lachman, R.; Beaulieu, C.L.; Schwartzentruber, J.; FORGE Canada Consortium; Majewski, J.; Geraghty, M.T.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗