Suzanne de Bruijn

63 The impact of modern technologies on molecular diagnostics REFERENCES 1. Van Camp, G. & Smith, R. Hereditary Hearing Loss Homepage. Available from: https:// hereditaryhearingloss.org/. 2. RetNet. Available from: https://sph.uth.edu/retnet/. 3. 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). 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. Wesdorp, M., Murillo-Cuesta, S., Peters, T., Celaya, A.M., Oonk, A., Schraders, M. et al. MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse. American Journal of Human Genetics 103 , 74-88 (2018). 6. Pierrache, L.H.M., Kimchi, A., Ratnapriya, R., Roberts, L., Astuti, G.D.N., Obolensky, A. et al. Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma. Ophthalmology 124 , 992-1003 (2017). 7. McClellan, J. & King, M.C. Genetic heterogeneity in human disease. Cell 141 , 210-207 (2010). 8. Dawn Teare, M. & Barrett, J.H. Genetic linkage studies. Lancet 366 , 1036-1044 (2005). 9. Waters, A.M. & Beales, P.L. Ciliopathies: an expanding disease spectrum. Pediatric Nephrology 26 , 1039-1056 (2011). 10. Cremers, F.P.M., van de Pol, D.J., van Kerkhoff, L.P., Wieringa, B. & Ropers, H.H. Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347 , 674-677 (1990). 11. Dryja, T.P., McGee, T.L., Reichel, E., Hahn, L.B., Cowley, G.S., Yandell, D.W. et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343 , 364-366 (1990). 12. de Kok, Y.J., van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S. et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267 , 685-688 (1995). 13. Broadgate, S., Yu, J., Downes, S.M. & Halford, S. Unravelling the genetics of inherited retinal dystrophies: Past, present and future. Progress in Retinal and Eye Research 59 , 53-96 (2017). 14. Morton, N.E. Sequential tests for the detection of linkage. American Journal of Human Genetics 7 , 277-318 (1955). 15. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. & Lander, E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. American Journal of Human Genetics 58 , 1347-1363 (1996). 16. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics 81 , 559-575 (2007). 17. Vona, B., Nanda, I., Hofrichter, M.A., Shehata-Dieler, W. & Haaf, T. Non-syndromic hearing loss gene identification: A brief history and glimpse into the future. Molecular and Cellular Probes 29 , 260-270 (2015).

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