Targeted resequencing of 14 individuals with Joubert syndrome identified variants in 26 genes, 9 of which had variants in multiple individuals. This suggests these 9 genes may contribute to or cause Joubert syndrome. The study aimed to discover new disease genes for Joubert syndrome by combining targeted DNA capture and massively parallel sequencing of 14 unrelated affected individuals. A custom gene array was used to capture 180 cilia-related genes, which were then sequenced. Variants were identified and filtered against databases to find novel candidate variants.