Publications
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet 95, 77-84 (2014).
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).