Suzanne de Bruijn

186 Chapter 4 REFERENCES 1. Haer-Wigman, L., van Zelst-Stams, W.A., Pfundt, R., van den Born, L.I., Klaver, C.C., Verheij, J.B. et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. European Journal of Human Genetics 25 , 591-599 (2017). 2. Verbakel, S.K., van Huet, R.A.C., Boon, C.J.F., den Hollander, A.I., Collin, R.W.J., Klaver, C.C.W. et al. Non-syndromic retinitis pigmentosa. Progress in Retinal and Eye Research 66 , 157-186 (2018). 3. Hamel, C. Retinitis pigmentosa. Orphanet Journal of Rare Diseases 1 , 40-40 (2006). 4. Fahim, A., Daiger, S. &Weleber, R. Nonsyndromic retinitis pigmentosa overview. GeneReviews (2017). 5. Snoeckx, R.L., Kremer, H., Ensink, R.J.H., Flothmann, K., de Brouwer, A., Smith, R.J.H. et al. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. Journal of Medical Genetics 41 , 11-13 (2004). 6. Sullivan, L.S., Bowne, S.J., Reeves, M.J., Blain, D., Goetz, K., Ndifor, V. et al. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science 54 , 6255-6261 (2013). 7. Daiger, S.P., Bowne, S.J. & Sullivan, L.S. Genes and mutations causing autosomal dominant retinitis pigmentosa. Cold Spring Harbor Perspectives in Medicine 5 , a017129 (2014). 8. Bardienb, S., Ebenezer, N., Greenberg, J., Inglehearn, C.F., Bartmann, L., Goliath, R. et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Human Molecular Genetics 4 , 1459-1462 (1995). 9. den Hollander, A.I., van der Velde-Visser, S.D., Pinckers, A.J.L.G., Hoyng, C.B., Brunner, H.G. & Cremers, F.P.M. Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. Human Genetics 104 , 73-76 (1999). 10. Rebello, G., Ramesar, R., Vorster, A., Roberts, L., Ehrenreich, L., Oppon, E. et al. Apoptosis- inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America 101 , 6617-6622 (2004). 11. Kohn, L., Burstedt, M.S.I., Jonsson, F., Kadzhaev, K., Haamer, E., Sandgren, O. et al. Carrier of R14W in carbonic anhydrase IV presents bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Investigative Ophthalmology & Visual Science 49 , 3172-3177 (2008). 12. Golovleva, I., Köhn, L., Burstedt, M., Daiger, S. & Sandgren, O. Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden. Advances in experimental medicine and biology 664 , 255-262 (2010). 13. Rao, S.S.P., Huntley, M.H., Durand, N.C., Stamenova, E.K., Bochkov, I.D., Robinson, J.T. et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159 , 1665-1680 (2014). 14. Spielmann, M., Lupiáñez, D.G. & Mundlos, S. Structural variation in the 3D genome. Nature Reviews Genetics 19 , 453-467 (2018).