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307 General discussion and perspectives 15. Chiu, R.W.K., Chan, K.C.A., Gao, Y., Lau, V.Y.M., Zheng, W., Leung, T.Y. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proceedings of the National Academy of Sciences 105 , 20458-20463 (2008). 16. Fan, H.C., Blumenfeld, Y.J., Chitkara, U., Hudgins, L. & Quake, S.R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proceedings of the National Academy of Sciences 105 , 16266-16271 (2008). 17. Le Meur, G., Lebranchu, P., Billaud, F., Adjali, O., Schmitt, S., Bézieau, S. et al. Safety and long- term efficacy of AAV4 gene therapy in patients with RPE65 leber congenital amaurosis. Molecular Therapy 26 , 256-268 (2018). 18. Testa, F., Maguire, A.M., Rossi, S., Pierce, E.A., Melillo, P., Marshall, K. et al. Three-year follow- up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology 120 , 1283-1291 (2013). 19. Weleber, R.G., Pennesi, M.E., Wilson, D.J., Kaushal, S., Erker, L.R., Jensen, L. et al. Results at 2 years after gene therapy for RPE65-deficient leber congenital amaurosis and severe early- childhood-onset retinal dystrophy. Ophthalmology 123 , 1606-1620 (2016). 20. Vázquez-Domínguez, I., Garanto, A. & Collin, R.W.J. Molecular therapies for inherited retinal diseases-current standing, opportunities and challenges. Genes (Basel) 10 (2019). 21. Delmaghani, S. & El-Amraoui, A. Inner ear gene therapies take off: Current promises and future challenges. Journal of Clinical Medicine 9 , 2309 (2020). 22. Cideciyan, A.V., Jacobson, S.G., Ho, A.C., Garafalo, A.V., Roman, A.J., Sumaroka, A. et al. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report. Nature Medicine , 785–789 (2021). 23. Darrow, J.J. Luxturna: FDA documents reveal the value of a costly gene therapy. Drug Discovery Today 24 , 949-954 (2019). 24. Kim, J., Hu, C., Moufawad El Achkar, C., Black, L.E., Douville, J., Larson, A. et al. Patient- Customized Oligonucleotide Therapy for a Rare Genetic Disease. New England Journal of Medicine 381 , 1644-1652 (2019). 25. Haer-Wigman, L., van der Schoot, V., Feenstra, I., Vulto-van Silfhout, A.T., Gilissen, C., Brunner, H.G. et al. 1 in 38 individuals at risk of a dominant medically actionable disease. European Journal of Human Genetics 27 , 325-330 (2019). 26. Hanany, M., Rivolta, C. & Sharon, D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proceedings of the National Academy of Sciences 117 , 2710-2716 (2020). 27. Sallevelt, S.C.E.H., Stegmann, A.P.A., de Koning, B., Velter, C., Steyls, A., van Esch, M. et al. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. Genetics in Medicine Online ahead of print (2021). 28. Kirk, E.P., Barlow-Stewart, K., Selvanathan, A., Josephi-Taylor, S., Worgan, L., Rajagopalan, S. et al. Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". Genetics in Medicine 21 , 608-612 (2019).