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2. Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Otto, Edgar, Hildebrandt, Friedhelm. . Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. In Human mutation, 25, 411. doi:. https://pubmed.ncbi.nlm.nih.gov/15776426/
3. Perrot, Andreas, Rickert-Sperling, Silke. . Human Genetics of Defects of Situs. In Advances in experimental medicine and biology, 1441, 705-717. doi:10.1007/978-3-031-44087-8_42. https://pubmed.ncbi.nlm.nih.gov/38884744/
4. Konta, Tsuneo, Takasaki, Satoshi, Ichikawa, Kazunobu, Kawata, Sumio, Kubota, Isao. 2010. The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata study. In Journal of human genetics, 55, 791-5. doi:10.1038/jhg.2010.113. https://pubmed.ncbi.nlm.nih.gov/20844548/
5. Habbig, Sandra, Bartram, Malte P, Müller, Roman U, Benzing, Thomas, Schermer, Bernhard. 2011. NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway. In The Journal of cell biology, 193, 633-42. doi:10.1083/jcb.201009069. https://pubmed.ncbi.nlm.nih.gov/21555462/
6. Alazami, A M, Alshammari, M J, Baig, M, Hassan, H H, Alkuraya, F S. 2013. NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. In Clinical genetics, 85, 371-5. doi:10.1111/cge.12160. https://pubmed.ncbi.nlm.nih.gov/23574405/
7. Wang, Junwen, Li, Shiqiang, Jiang, Yi, Wang, Panfeng, Zhang, Qingjiong. 2023. Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. In American journal of ophthalmology, 252, 188-204. doi:10.1016/j.ajo.2023.03.025. https://pubmed.ncbi.nlm.nih.gov/36990420/
8. Won, Jungyeon, Marín de Evsikova, Caralina, Smith, Richard S, Naggert, Jürgen K, Nishina, Patsy M. 2010. NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. In Human molecular genetics, 20, 482-96. doi:10.1093/hmg/ddq494. https://pubmed.ncbi.nlm.nih.gov/21078623/
9. French, Vanessa M, van de Laar, Ingrid M B H, Wessels, Marja W, Amack, Jeffrey D, Bertoli-Avella, Aida M. 2012. NPHP4 variants are associated with pleiotropic heart malformations. In Circulation research, 110, 1564-74. doi:10.1161/CIRCRESAHA.112.269795. https://pubmed.ncbi.nlm.nih.gov/22550138/
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