Publications
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).