1. McConnachie, Dominique J, Stow, Jennifer L, Mallett, Andrew J. 2020. Ciliopathies and the Kidney: A Review. In American journal of kidney diseases : the official journal of the National Kidney Foundation, 77, 410-419. doi:10.1053/j.ajkd.2020.08.012. https://pubmed.ncbi.nlm.nih.gov/33039432/
2. Gana, Simone, Serpieri, Valentina, Valente, Enza Maria. 2022. Genotype-phenotype correlates in Joubert syndrome: A review. In American journal of medical genetics. Part C, Seminars in medical genetics, 190, 72-88. doi:10.1002/ajmg.c.31963. https://pubmed.ncbi.nlm.nih.gov/35238134/
3. Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, Shendure, J, Doherty, D. 2015. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. In Journal of medical genetics, 52, 514-22. doi:10.1136/jmedgenet-2015-103087. https://pubmed.ncbi.nlm.nih.gov/26092869/
4. Brancati, Francesco, Camerota, Letizia, Colao, Emma, Perrotti, Nicola, Otto, Edgar A. 2018. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. In European journal of human genetics : EJHG, 26, 1266-1271. doi:10.1038/s41431-018-0183-6. https://pubmed.ncbi.nlm.nih.gov/29891882/
5. Kozina, Anastasiya Aleksandrovna, Kanaeva, Guria Kurbanovna, Baryshnikova, Natalia Vladimirovna, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich. . A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. In The Journal of international medical research, 51, 3000605231206294. doi:10.1177/03000605231206294. https://pubmed.ncbi.nlm.nih.gov/37910852/
6. Tkemaladze, T, Melikishvili, G, Kherkheulidze, V, Melikishvili, A, Davitaia, T. . EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). In Georgian medical news, , 100-103. doi:. https://pubmed.ncbi.nlm.nih.gov/28726664/