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. 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) ↗
3. 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) ↗
4. 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) ↗
5. Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum. Issue 3 (30th January 2017) Authors: Smith, C.; Parboosingh, J.S.; Boycott, K.M.; Bönnemann, C.G.; Mah, J.K.; Lamont, R.E.; Micheil Innes, A.; Bernier, F.P. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. Issue 5 (30th November 2016) Authors: Kernohan, K.D.; McBride, A.; Xi, Y.; Martin, N.; Schwartzentruber, J.; Dyment, D.A.; Majewski, J.; Blaser, S.; Boycott, K.M.; Chitayat, D. Journal: Clinical genetics Issue: Volume 91:Issue 5(2017) Page Start: 708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. The genetic landscape of hereditary spastic paraplegia in Canada. (October 2020) Authors: Estiar, M.A.; Yu, E.; Ruskey, J.A.; Leveille, E.; Asayesh, F.; Spiegelman, D.; Trempe, J.F.; Tarnopolsky, M.; Suchowersky, O.; Dupré, N.; Boycott, K.M.; Yoon, G.; Rouleau, G.A.; Gan-Or, Z. Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗