Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie Bielas, Joseph G. Gleeson, Philip W. Majerus et al.|Nature Genetics|2009Cited by 412
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert SyndromeVincent Cantagrel, Joseph G. Gleeson, Jennifer L. Silhavy et al.|The American Journal of Human Genetics|2008Cited by 399
Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementTracy Dixon‐Salazar, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Science Translational Medicine|2012Cited by 258
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Nature Genetics|2012Cited by 190
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusJeong Ho Lee, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Science|2012Cited by 99