Suzanne de Bruijn

117 A RIPOR2 deletion is a frequent cause of adult-onset hearing loss 16. M. Mazzoli, G.V.C., V. Newton, N. Giarbini, F. Declau, A. Parving. Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. GeneReviews (2003). 17. Smits, J.J., Oostrik, J., Beynon, A.J., Kant, S.G., de Koning Gans, P.A.M., Rotteveel, L.J.C. et al. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Human Genetics 138 , 61-72 (2019). 18. Huygen, P., Pennings, R. & Cremers, C. Characterizing and distinguishing progressive phenotypes in nonsyndromic autosomal dominant hearing impairment. Audiological Medicine , 37-46 (2003). 19. Zhao, B.,Wu, Z. &Müller, U. Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. eLife 5 , e14222 (2016). 20. de Bruijn, S.E., Verbakel, S.K., de Vrieze, E., Kremer, H., Cremers, F.P.M., Hoyng, C.B. et al. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics 55 , 705-712 (2018). 21. Schrauwen, I., Hasin-Brumshtein, Y., Corneveaux, J.J., Ohmen, J., White, C., Allen, A.N. et al. A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear. Hearing Research 333 , 266-274 (2016). 22. Scheffer, D.I., Shen, J., Corey, D.P. & Chen, Z.-Y. Gene expression by mouse inner ear hair cells during development. Journal of Neuroscience 35 , 6366-6380 (2015). 23. Capoano, C.A., Wettstein, R., Kun, A. & Geisinger, A. Spats 1 (Srsp1) is differentially expressed during testis development of the rat. Gene Expression Patterns 10 , 1-8 (2010). 24. Landrum, M.J., Lee, J.M., Riley, G.R., Jang, W., Rubinstein, W.S., Church, D.M. et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Research 42 , D980-D985 (2014). 25. Lange, J., Wyrwicz, L.S. & Vriend, G. KMAD: knowledge-based multiple sequence alignment for intrinsically disordered proteins. Bioinformatics 32 , 932-936 (2016). 26. Rose, A. & Meier, I. Scaffolds, levers, rods and springs: diverse cellular functions of long coiled-coil proteins. Cellular and Molecular Life Sciences CMLS 61 , 1996-2009 (2004). 27. Cremers, F.P.M., Cornelis, S.S., Runhart, E.H. & Astuti, G.D.N. Author response: penetrance of the ABCA4 p.Asn1868Ile allele in Stargardt disease. Investigative Ophthalmology & Visual Science 59 , 5566-5568 (2018). 28. Diaz-Horta, O., Abad, C., Cengiz, F.B., Bademci, G., Blackwelder, P., Walz, K. et al. Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation. Journal of Molecular Medicine 96 , 1227-1238 (2018). 29. Barr-Gillespie, P.-G. Assembly of hair bundles, an amazing problem for cell biology. Molecular Biology of the Cell 26 , 2727-2732 (2015). 30. Men, Y., Li, X., Tu, H., Zhang, A., Fu, X., Wang, Z. et al. Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. Frontiers of Medicine 13 , 690-704 (2018). 31. Liu, C., Luo, N., Tung, C.-Y., Perrin, B.J. & Zhao, B. GRXCR2 regulates taperin localization critical for stereocilia morphology and hearing. Cell Reports 25 , 1268-1280 (2018).