1. Aprea, I, Wilken, A, Krallmann, C, Raidt, J, Omran, H. 2023. Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility. In Frontiers in genetics, 14, 1117821. doi:10.3389/fgene.2023.1117821. https://pubmed.ncbi.nlm.nih.gov/36873931/
2. Guan, Yuhong, Yang, Haiming, Yao, Xingfeng, Ge, Wentong, Ni, Xin. 2021. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. In Chest, 159, 1768-1781. doi:10.1016/j.chest.2021.02.006. https://pubmed.ncbi.nlm.nih.gov/33577779/
3. Zou, Wenzheng, Lv, Yuqing, Liu, Zux Iang, Li, Hong, Jiao, Jianwei. 2020. Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice. In Scientific reports, 10, 12435. doi:10.1038/s41598-020-69447-4. https://pubmed.ncbi.nlm.nih.gov/32709945/
4. Reish, Orit, Slatkin, Montgomery, Chapman-Shimshoni, Daphne, Castleman, Victoria, Mitchison, Hannah M. 2010. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. In Annals of human genetics, 74, 117-25. doi:10.1111/j.1469-1809.2009.00559.x. https://pubmed.ncbi.nlm.nih.gov/20070851/
5. Yiallouros, Panayiotis K, Kouis, Panayiotis, Pirpa, Panayiota, Kyriacou, Kyriacos, Hadjisavvas, Andreas. . Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus. In Journal of thoracic disease, 11, 2067-2075. doi:10.21037/jtd.2019.04.71. https://pubmed.ncbi.nlm.nih.gov/31285900/
6. Frommer, Adrien, Hjeij, Rim, Loges, Niki T, Haeffner, Karsten, Omran, Heymut. . Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. In American journal of respiratory cell and molecular biology, 53, 563-73. doi:10.1165/rcmb.2014-0483OC. https://pubmed.ncbi.nlm.nih.gov/25789548/
7. Mabrouk, Imed, Al-Harthi, Nawal, Mani, Rahma, Escudier, Estelle, Legendre, Marie. 2022. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. In Journal of human genetics, 67, 381-386. doi:10.1038/s10038-021-01006-9. https://pubmed.ncbi.nlm.nih.gov/35046476/
8. Al-Mutairi, Dalal A, Alsabah, Basel H, Pennekamp, Petra, Omran, Heymut. 2023. Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs. In Journal of clinical medicine, 12, . doi:10.3390/jcm12206505. https://pubmed.ncbi.nlm.nih.gov/37892643/