Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


The 'Rare Disease Report' website, an independent voice on rare diseases, features TIDE-BC with focus on the treatable intellectual disability APP. In an interview, Clara van Karnebeek highlights the innovative approach to developmental delays at BC Children's Hospital. The full article is available here.