1. Birtel, Johannes, Spital, Georg, Book, Marius, König, Jens, Charbel Issa, Peter. 2021. NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. In Kidney international, 100, 1092-1100. doi:10.1016/j.kint.2021.06.012. https://pubmed.ncbi.nlm.nih.gov/34153329/
2. 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/
3. Snoek, Rozemarijn, van Setten, Jessica, Keating, Brendan J, de Borst, Martin H, van Eerde, Albertien M. 2018. NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. In Journal of the American Society of Nephrology : JASN, 29, 1772-1779. doi:10.1681/ASN.2017111200. https://pubmed.ncbi.nlm.nih.gov/29654215/
4. 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/
5. Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Zaidan, Mohamad, Saunier, Sophie. 2023. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. In Kidney international, 104, 378-387. doi:10.1016/j.kint.2023.05.007. https://pubmed.ncbi.nlm.nih.gov/37230223/
6. Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Bolz, Hanno J, Charbel Issa, Peter. 2018. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. In Scientific reports, 8, 4824. doi:10.1038/s41598-018-22096-0. https://pubmed.ncbi.nlm.nih.gov/29555955/
7. Wolf, Matthias T F, Hildebrandt, Friedhelm. 2010. Nephronophthisis. In Pediatric nephrology (Berlin, Germany), 26, 181-94. doi:10.1007/s00467-010-1585-z. https://pubmed.ncbi.nlm.nih.gov/20652329/