1. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Issue 3 (22nd September 2015) Authors: Sawyer, S.L.; Hartley, T.; Dyment, D.A.; Beaulieu, C.L.; Schwartzentruber, J.; Smith, A.; Bedford, H.M.; Bernard, G.; Bernier, F.P.; Brais, B.; Bulman, D.E.; Warman Chardon, J.; Chitayat, D.; Deladoëy, J.; Fernandez, B.A.; Frosk, P.; Geraghty, M.T.; Gerull, B.; Gibson, W.; Gow, R.M. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗