Publications
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor Other Hyperkinet Mov (N Y) 5, 306 (2015).
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet 98, 1249-1255 (2016).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).