Publications
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).
Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 161A, 1064-72 (2013).