TBCK encephaloneuropathy with abnormal lysosomal storage: use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery - Sumathipala, D; Strømme, P; Gilissen, C; Corominas, J; Frengen, E; Misceo, D (Pediatr Neurol, 2019)