Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie Bielas, Joseph G. Gleeson, Elisa Fazzi et al.|Nature Genetics|2009Cited by 412
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Nature Genetics|2006Cited by 402
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Tania Attié‐Bitach, Clare V. Logan et al.|Nature Genetics|2010Cited by 285
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
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesPeter De Jonghe, Jonathan Baets, Michaela Auer‐Grumbach et al.|Brain|2010Cited by 134