Clinical whole-exome sequencing for the diagnosis of Mendelian disorders< /strong> < /h2>

Original research article by Y. Yang   et al. < /em> (2013) . < /p>

Read the abstract here< /a> . < /p>

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. < /p>