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

Stephanie Gandomi, Elizabeth Chao, Sha Tang, Zöe Powis, Erika Palmaer, Kelly Gonzalez, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen, Ruth Baxter, Wenqi Zeng