Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Tooze RS., Hyder Z., Calpena E., Pei Y., Twigg SRF., Cilliers D., Morton JEV., McCann E., Weber A., Wilson LC., Need A., Bond A., Tavares ALT., Brittain H., Thomas E., Hill SL., Deans ZC., Boardman-Pretty F., Caulfield M., Scott RH., Wilkie AOM.