1. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. (28th May 2015) Authors: Srour, M.; Hamdan, F. F.; Gan‐Or, Z.; Labuda, D.; Nassif, C.; Oskoui, M.; Gana‐Weisz, M.; Orr‐Urtreger, A.; Rouleau, G.A.; Michaud, J.L. Journal: Clinical genetics Issue: Volume 88:Number 1(2015:Jul.) Page Start: E1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. Issue 3 (16th September 2016) Authors: Mahmud, A.A.; Nahid, N.A.; Nassif, C.; Sayeed, M.S.B.; Ahmed, M.U.; Parveen, M.; Khalil, M.I.; Islam, M.M.; Nahar, Z.; Rypens, F.; Hamdan, F.F.; Rouleau, G.A.; Hasnat, A.; Michaud, J.L. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Refining the phenotype associated with biallelic DNAJC21 mutations. Issue 2 (7th June 2018) Authors: D'Amours, G.; Lopes, F.; Gauthier, J.; Saillour, V.; Nassif, C.; Wynn, R.; Alos, N.; Leblanc, T.; Capri, Y.; Nizard, S.; Lemyre, E.; Michaud, J.L.; Pelletier, V.‐A.; Pastore, Y.D.; Soucy, J.‐F. Journal: Clinical genetics Issue: Volume 94:Issue 2(2018) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗