Roughly half of patients presenting with ataxia and/or spasticity receive a definitive diagnosis with diagnostic exome sequencing (DES)

• Authors: Zöe Powis; Erika Palmaer; Kelly Gonzalez; Cameron Mroske; Layla Shahmirzadi; Dima El-Khechen; Stephanie Gandomi; Ruth Baxter; Wenqi Zeng; Elizabeth Chao; Sha Tang
• Collaborators: Boston University
• Conference: ACMG 2014
• Date: Tuesday, Mar 25, 2014 12:00am - 12:00pm