1. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Issue 7 (July 2015) Authors: Noor, Abdul; Dupuis, Lucie; Mittal, Kirti; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stockley, Tracy; Vincent, John B.; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J. Journal: Human mutation Issue: Volume 36:Issue 7(2015:Jul.) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype. Issue 8 (20th May 2022) Authors: Vincent, Krista Marie; Stavropoulos, Dimitri J.; Beaulieu‐Bergeron, Melanie; Yang, Chen; Jiang, Mary; Zuijdwijk, Caroline; Dyment, David A.; Graham, Gail E. Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. Issue 5 (3rd April 2017) Authors: Zarrei, Mehdi; Merico, Daniele; Kellam, Barbara; Engchuan, Worrawat; Scriver, Tara; Jokhan, Rikash; Wilson, Michael D.; Parr, Jeremy; Lemire, Edmond G.; Stavropoulos, Dimitri J.; Scherer, Stephen W. Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adult neuropsychiatric expression and familial segregation of 2q13 duplications. Issue 4 (8th May 2014) Authors: Costain, Gregory; Lionel, Anath C.; Fu, Fiona; Stavropoulos, Dimitri J.; Gazzellone, Matthew J.; Marshall, Christian R.; Scherer, Stephen W.; Bassett, Anne S. Journal: American journal of medical genetics Issue: Volume 165:Issue 4(2014) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Issue 9 (25th July 2017) Authors: Chaudhry, Ayeshah; Chung, Brian H.; Stavropoulos, Dimitri J.; Araya, Marcela P.; Ali, Asim; Heon, Elise; Chitayat, David Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and genetic study of hereditary spastic paraplegia in Canada. (February 2017) Authors: Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Di... Journal: Neurology Issue: Volume 3:Number 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris. Issue 3 (20th December 2013) Authors: Al‐Maawali, Almundher; Marshall, Christian R.; Scherer, Stephen W.; Dupuis, Lucie; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 796 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016) Authors: Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der... Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 670 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms. Issue 6 (15th September 2014) Authors: Baskin, Berivan; Stavropoulos, Dimitri J.; Rebeiro, Paige A.; Orr, Jennifer; Li, Martin; Steele, Leslie; Marshall, Christian R.; Lemire, Edmond G.; Boycott, Kym M.; Gibson, William; Ray, Peter N. Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 6(2014:Nov.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Issue 11 (11th October 2018) Authors: Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao‐Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund‐Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld‐Kaise... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗