Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. - Vilboux T; Doherty DA; Glass IA; Parisi MA; Phelps IG; Cullinane AR; Zein W; Brooks BP; Heller T; Soldatos A; Oden NL; Yildirimli D; et al. (Genetics in medicine : official journal of the American College of Medical Genetics, 2017)