1. Aksu Uzunhan, Tuğçe, Ertürk, Biray, Aydın, Kürşad, Yüksel, Atıl, Kayserili, Hülya. 2022. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome. In Clinical neurology and neurosurgery, 224, 107560. doi:10.1016/j.clineuro.2022.107560. https://pubmed.ncbi.nlm.nih.gov/36580738/
2. Turner, Jacob S, McCabe, Ellie A, Kuang, Kevin W, Wang, Elena X, Fu, Zheng. 2023. The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia. In Molecular and cellular biology, 43, 472-480. doi:10.1080/10985549.2023.2246870. https://pubmed.ncbi.nlm.nih.gov/37665596/
3. Limerick, Ana, McCabe, Ellie A, Turner, Jacob S, Xu, Wenhao, Fu, Zheng. 2024. An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.05.14.594243. https://pubmed.ncbi.nlm.nih.gov/38798407/
4. Limerick, Ana, McCabe, Ellie A, Turner, Jacob S, Xu, Wenhao, Fu, Zheng. 2024. An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling. In Cells, 13, . doi:10.3390/cells13151258. https://pubmed.ncbi.nlm.nih.gov/39120290/
5. Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Dallapiccola, Bruno, Tartaglia, Marco. 2020. Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. In BMC pediatrics, 20, 120. doi:10.1186/s12887-020-2019-0. https://pubmed.ncbi.nlm.nih.gov/32164589/
6. Fujita, Atsushi, Higashijima, Takefumi, Shirozu, Hiroshi, Saitsu, Hirotomo, Matsumoto, Naomichi. 2019. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. In Neurology, 93, e237-e251. doi:10.1212/WNL.0000000000007774. https://pubmed.ncbi.nlm.nih.gov/31197031/