Suzanne de Bruijn

312 Chapter 6 86. Gaboon, N.E.A., Banaganapalli, B., Nasser, K., Razeeth, M., Alsaedi, M.S., Rashidi, O.M. et al. Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects. Saudi Journal of Biological Sciences 27 , 324-334 (2020). 87. Schmidtke, C., Tiede, S., Thelen, M., Käkelä, R., Jabs, S., Makrypidi, G. et al. Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking. Journal of Biological Chemistry 294 , 9592-9604 (2019). 88. Kaya-Okur, H.S., Wu, S.J., Codomo, C.A., Pledger, E.S., Bryson, T.D., Henikoff, J.G. et al. CUT&Tag for efficient epigenomic profiling of small samples and single cells. Nature Communications 10 , 1930 (2019). 89. Cherry, T.J., Yang, M.G., Harmin, D.A., Tao, P., Timms, A.E., Bauwens, M. et al. Mapping the cis- regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proceedings of the National Academy of Sciences 117 , 9001-9012 (2020). 90. Oliver, V.F., Jaffe, A.E., Song, J., Wang, G., Zhang, P., Branham, K.E. et al. Differential DNA methylation identified in the blood and retina of AMD patients. Epigenetics 10 , 698-707 (2015). 91. Kempfer, R. & Pombo, A. Methods for mapping 3D chromosome architecture. Nature Reviews Genetics 21 , 207-226 (2020). 92. Voigt, A.P., Mulfaul, K., Mullin, N.K., Flamme-Wiese, M.J., Giacalone, J.C., Stone, E.M. et al. Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration. Proceedings of the National Academy of Sciences 116 , 24100- 24107 (2019). 93. Lukowski, S.W., Lo, C.Y., Sharov, A.A., Nguyen, Q., Fang, L., Hung, S.S. et al. A single-cell transcriptome atlas of the adult human retina. EMBO Journal 38 , e100811 (2019). 94. Macosko, Evan Z., Basu, A., Satija, R., Nemesh, J., Shekhar, K., Goldman, M. et al. Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets. Cell 161 , 1202-1214 (2015). 95. Sun, S., Babola, T., Pregernig, G., So, K.S., Nguyen, M., Su, S.-S.M. et al. Hair cell mechanotransduction regulates spontaneous activity and spiral ganglion subtype specification in the auditory system. Cell 174 , 1247-1263 (2018). 96. Shrestha, B.R., Chia, C., Wu, L., Kujawa, S.G., Liberman, M.C. & Goodrich, L.V. Sensory neuron diversity in the inner ear is shaped by activity. Cell 174 , 1229-1246 (2018). 97. Aísa-Marín, I., García-Arroyo, R., Mirra, S. & Marfany, G. The alter retina: alternative splicing of retinal genes in health and disease. International Journal of Molecular Sciences 22 , 1855 (2021). 98. Ranum, P.T., Goodwin, A.T., Yoshimura, H., Kolbe, D.L., Walls, W.D., Koh, J.-Y. et al. Insights into the biology of hearing and deafness revealed by single-cell RNA sequencing. Cell Reports 26 , 3160-3171 (2019). 99. Ray, T.A., Cochran, K., Kozlowski, C., Wang, J., Alexander, G., Cady, M.A. et al. Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease. Nature Communications 11 , 3328 (2020).