16 Hunt Hunt D D Leventer Leventer RJ RJ Simons Simons C C Taft Taft R R Swoboda Swoboda KJ KJ Gawne-Cain Gawne-Cain M M Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability J Med Genet J Med Genet 2014 2014 51 51 806 806 813 813 10.1136/jmedgenet-2014-102798 10.1136/jmedgenet-2014-102798 25342064 25342064. The gene discussed is PURA; the disease is Neurodevelopmental delay.