Publications
Mendelian Gene Discovery: Fast and Furious with No End in Sight. Am J Hum Genet 105, 448-455 (2019).
Genetic counselors on the frontline of precision health. Am J Med Genet C Semin Med Genet 178, 5-9 (2018).
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).