1. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes. Issue 1 (December 2018) Authors: Aref-Eshghi, Erfan; Bend, Eric; Hood, Rebecca; Schenkel, Laila; Carere, Deanna; Chakrabarti, Rana; Nagamani, Sandesh; Cheung, Sau; Campeau, Philippe; Prasad, Chitra; Siu, Victoria; Brady, Lauren; Tarnopolsky, Mark; Callen, David; Innes, A.; White, Susan; Meschino, Wendy; Shuen, Andrew; Paré, Guil... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. In reference to should infants who fail their newborn hearing screen undergo cytomegalovirus testing?. (20th December 2017) Authors: Gantt, Soren; Goldfarb, David M.; Dionne, Francois; Bulman, Dennis; Doutré, Sara Menlove Journal: Laryngoscope Issue: Volume 128:Number 7(2018) Page Start: E267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MG-131 ZNF259 is a candidate gene for alopecia-primordial dwarfism-renal syndrome (APDRS). (4th December 2015) Authors: Smith, Amanda; Clericuzio, Carol; Ahmed, Afsana; McDonell, Laura; Sawyer, Sarah; Bulman, Dennis; Boycott, Kym Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Issue 7 (5th June 2014) Authors: Venkateswaran, Sunita; Myers, Ken A.; Smith, Amanda C.; Beaulieu, Chandree L.; Schwartzentruber, Jeremy A.; FORGE Canada Consortium; Majewski, Jacek; Bulman, Dennis; Boycott, Kym M.; Dyment, David A. Journal: Epilepsia Issue: Volume 55:Issue 7(2014:Jul.) Page Start: e75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗