Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. - Serpieri V; Mortarini G; Loucks H; Biagini T; Micalizzi A; Palmieri I; Dempsey JC; D'Abrusco F; Mazzotta C; Battini R; Bertini ES; Boltshauser E; et al. (Journal of medical genetics, 2023)