1. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Issue 11 (8th June 2021) Authors: Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A; Sumner, Charlotte J; Roda, Ricardo H; Chaudhry, Vinay; Lloyd, Thomas E; Crawford, Thomas O; Subramony, S H; Oh, Shin J; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y; Fischbeck, Kenneth H; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 11(2021) Page Start: 1186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗