1. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. (July 2018) Authors: Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser,... Journal: Genetics in medicine Issue: Volume 20:Number 7(2018) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 11 (18th October 2014) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffaut, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; FORGE Canada Consortium; Michaud, Jacques; Boles, Richard G.... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 2 (February 2015) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Consortium, FORGE Canada; Michaud, Jacques; Boles, Richard ... Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Polygenic risk scores of several subtypes of epilepsies in a founder population. (June 2020) Authors: Moreau, Claudia; Rébillard, Rose-Marie; Wolking, Stefan; Michaud, Jacques; Tremblay, Frédérique; Girard, Alexandre; Bouchard, Joanie; Minassian, Berge; Laprise, Catherine; Cossette, Patrick; Girard, Simon L. Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗