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 article here< /a> . < /p>

In this study, whole-exome sequencing was used to search for genetic causes of unexplained developmental delay, intellectual disability, and neurological differences in 250 children. About 25% of these children, including two children with   ARID1B< /em>   changes, were found to have a genetic change that explained their diagnosis. Physical, behavioral, and intellectual characteristics of these children were not described. < /p>

Seven people, including the two people with changes in   ARID1B< /em> ,    < /em>would not have received a diagnosis if this study had been conducted before 2012, when new research reports became available. < /p>