Suzanne de Bruijn

306 Chapter 6 REFERENCES 1. Venter, J.C., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G. et al. The sequence of the human genome. Science 291 , 1304-1351 (2001). 2. Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J. et al. Initial sequencing and analysis of the human genome. Nature 409 , 860-921 (2001). 3. Schloss, J.A. How to get genomes at one ten-thousandth the cost. Nature Biotechnology 26 , 1113-1115 (2008). 4. 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). 5. Tiwari, A., Bahr, A., Bähr, L., Fleischhauer, J., Zinkernagel, M.S.,Winkler, N. et al. Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports 6 , 28755 (2016). 6. Xu, Y., Guan, L., Shen, T., Zhang, J., Xiao, X., Jiang, H. et al. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. HumanGenetics 133 , 1255-1271 (2014). 7. Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A.O., Al-Owain, M. et al. Autozygome- guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Research 23 , 236-247 (2013). 8. Sloan-Heggen, C.M., Bierer, A.O., Shearer, A.E., Kolbe, D.L., Nishimura, C.J., Frees, K.L. et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Human Genetics 135 , 441-450 (2016). 9. Zazo Seco, C., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J.Y., Lelieveld, S.H. et al. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. European Journal of Human Genetics 25 , 308-314 (2017). 10. Oonk, A.M.M., Ariens, S., Kunst, H.P.M., Admiraal, R.J.C., Kremer, H. & Pennings, R.J.E. Psychological impact of a genetic diagnosis on hearing impairment-An exploratory study. Clinical Otolaryngology 43 , 47-54 (2018). 11. Astuto, L.M., Bork, J.M.,Weston, M.D., Askew, J.W., Fields, R.R., Orten, D.J. et al. CDH23mutation and phenotype heterogeneity: A profile of 107 diverse families with usher syndrome and nonsyndromic deafness. American Journal of Human Genetics 71 , 262-275 (2002). 12. Toualbi, L., Toms, M. & Moosajee, M. USH2A-retinopathy: from genetics to therapeutics. Experimental Eye Research 201 , 108330 (2020). 13. Bayefsky, M.J. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism. Reproductive Biomedicine & Society Online 3 , 41-47 (2016). 14. van der Meij, K.R.M., Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N. et al. TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. American Journal of Human Genetics 105 , 1091- 1101 (2019).