1. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Issue 1 (24th May 2016) Authors: Amos, J.S.; Huang, L.; Thevenon, J.; Kariminedjad, A.; Beaulieu, C.L.; Masurel‐Paulet, A.; Najmabadi, H.; Fattahi, Z.; Beheshtian, M.; Tonekaboni, S.H.; Tang, S.; Helbig, K.L.; Alcaraz, W.; Rivière, J.‐B.; Faivre, L.; Innes, A.M.; Lebel, R.R.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 91:Issue 1(2017) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing. Issue 3 (13th March 2017) Authors: Balci, T.B.; Hartley, T.; Xi, Y.; Dyment, D.A.; Beaulieu, C.L.; Bernier, F.P.; Dupuis, L.; Horvath, G.A.; Mendoza‐Londono, R.; Prasad, C.; Richer, J.; Yang, X.‐R.; Armour, C.M.; Bareke, E.; Fernandez, B.A.; McMillan, H.J.; Lamont, R.E.; Majewski, J.; Parboosingh, J.S.; Prasad, A.N. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. (28th August 2014) Authors: Dyment, D.A.; Tétreault, M.; Beaulieu, C.L.; Hartley, T.; Ferreira, P.; Chardon, J.W.; Marcadier, J.; Sawyer, S.L.; Mosca, S.J.; Innes, A.M.; Parboosingh, J.S.; Bulman, D.E.; Schwartzentruber, J.; Majewski, J.; Tarnopolsky, M.; Boycott, K.M.; FORGE Canada Consortium; Care4Rare Canada Journal: Clinical genetics Issue: Volume 88:Number 1(2015:Jul.) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗