1. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. Issue 3 (29th June 2018) Authors: Ito, Y.A.; Smith, A.C.; Kernohan, K.D.; Pena, I.A.; Ahmed, A.; McDonell, L.M.; Beaulieu, C.; Bulman, D.E.; Smidt, A.; Sawyer, S.L.; Dyment, D.A.; Boycott, K.M.; Clericuzio, C.L. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. (26th February 2015) Authors: Chardon, Jodi Warman; Smith, A.C.; Woulfe, J.; Pena, E.; Rakhra, K.; Dennie, C.; Beaulieu, C.; Huang, Lijia; Schwartzentruber, J.; Hawkins, C.; Harms, M.B.; Dojeiji, S.; Zhang, M.; Majewski, J.; Bulman, D.E.; Boycott, K.M.; Dyment, D.A. Journal: Clinical genetics Issue: Volume 88:Number 6(2015:Dec.) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. (23rd October 2013) Authors: Nikkel, S.M.; Ahmed, A.; Smith, A.; Marcadier, J.; Bulman, D.E.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Issue 2 (12th December 2017) Authors: Hartley, T.; Wagner, J.D.; Warman‐Chardon, J.; Tétreault, M.; Brady, L.; Baker, S.; Tarnopolsky, M.; Bourque, P.R.; Parboosingh, J.S.; Smith, C.; McInnes, B.; Innes, A.M.; Bernier, F.; Curry, C.J.; Yoon, G.; Horvath, G.A.; Bareke, E.; Gillespie, M.; Majewski, J.; Bulman, D.E. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗