Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
Original research article by Y. Yang et al. (2013).
Read the abstract here.
In this study, whole exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. One child had a mutation in the SYNGAP1 gene that is believed to be the cause of his intellectual disability.