The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).