Clinical whole-exome sequencing in child neurology practice
Original research article by S. Srivastava et al. (2014).
Read the abstract here.
This study tested 78 people with developmental delay, intellectual disability, cerebral palsy, or autism using whole-exome sequencing. One child, who has some degree of intellectual disability, was found to have an ASXL3 change and was diagnosed with Bainbridge-Ropers syndrome. No developmental regression was observed.