Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Michelle van SlobbeArie van HaeringenLisenka E L M VissersEmilia K BijlsmaJulie W RuttenManon SuerinkEsther A R NibbelingClaudia A L RuivenkampSaskia KoenePublished in: European journal of pediatrics (2023)
• WES reanalysis in standard patient care resulted in a diagnostic yield of 13% in previously exome negative children with NDD. • The presence of dysmorphic features is associated with an increased diagnostic yield of WES reanalysis.