Publications
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94, 734-44 (2014).