A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Human Molecular Genetics
Srivastava, Shalabh S; Ramsbottom, Simon A SA; Molinari, Elisa E; Alkanderi, Sumaya S; Filby, Andrew A; White, Kathryn K; Henry, Charline C; Saunier, Sophie S; Miles, Colin G CG; Sayer, John A JA