Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis (European Journal of Human Genetics, 2022)

(untitled) - Tooze, RS; Hyder, Z; Calpena, E; Pei, Y; Twigg, SRF; Cilliers, D; Morton, JEV; McCann, E; Weber, A; Wilson, LC; Need, A; Bond, A; et al.