Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Tania Attié‐Bitach, Sveva Romani 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
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusJeong Ho Lee, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Science|2012Cited by 99
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.Lee Jeong Ho, 安倍 真澄, Silhavy Jennifer L et al.|Institutional Repositories DataBase (IRDB)|2012Cited by 0