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    Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., , , Magee, A. C., Turnpenny, P. D., & Baralle, D. (2014). whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Journal of medical genetics, 51(12), 806–813. http://access.bl.uk/ark:/81055/vdc_100135173888.0x00004e