Acknowledgements
We appreciate the participation of all patients and their parents in
this study. We thank Arron Scott and Bryan Hepworth (Newcastle
University) for technical support, the genomics core facility for whole
exome sequencing (WES), the Bioinformatic support unit (BSU) for initial
WES processing. This project was funded by an Investigator Award in
Science from the Wellcome Trust (209451) to J.A.V.