Suzanne de Bruijn

65 The impact of modern technologies on molecular diagnostics 34. Levy, S.E. & Myers, R.M. Advancements in next-generation sequencing. Annual Review of Genomics and Human Genetics 17 , 95-115 (2016). 35. Smith, L.M., Fung, S., Hunkapiller, M.W., Hunkapiller, T.J. & Hood, L.E. The synthesis of oligonucleotides containing an aliphatic amino group at the 5' terminus: synthesis of fluorescent DNA primers for use in DNA sequence analysis. Nucleic Acids Research 13 , 2399- 2412 (1985). 36. Smith, L.M., Sanders, J.Z., Kaiser, R.J., Hughes, P., Dodd, C., Connell, C.R. et al. Fluorescence detection in automated DNA sequence analysis. Nature 321 , 674-9 (1986). 37. Mullis, K., Faloona, F., Scharf, S., Saiki, R., Horn, G. & Erlich, H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harbor Symposia on Quantitative Biology 51 , 263-273 (1986). 38. Buermans, H.P. & den Dunnen, J.T. Next generation sequencing technology: advances and applications. Biochimica et Biophysica Acta 1842 , 1932-1941 (2014). 39. Choi, B.Y., Park, G., Gim, J., Kim, A.R., Kim, B.J., Kim, H.S. et al. Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. PLoS One 8 , e68692 (2013). 40. Dockery, A., Stephenson, K., Keegan, D., Wynne, N., Silvestri, G., Humphries, P. et al. Target 5000: target capture sequencing for inherited retinal degenerations. Genes (Basel) 8 , 304 (2017). 41. Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K. et al. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in Medicine 22 , 1235-1246 (2020). 42. Lin, X., Tang, W., Ahmad, S., Lu, J., Colby, C.C., Zhu, J. et al. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hearing Research 288 , 67-76 (2012). 43. Choi, M., Scholl, U.I., Ji, W., Liu, T., Tikhonova, I.R., Zumbo, P. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences USA 106 , 19096-19101 (2009). 44. Stenson, P.D., Mort, M., Ball, E.V., Evans, K., Hayden, M., Heywood, S. et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 , 665-677 (2017). 45. Stranneheim, H. &Wedell, A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. Journal of Internal Medicine 279 , 3-15 (2016). 46. Tucker, T., Marra, M. & Friedman, J.M. Massively parallel sequencing: the next big thing in genetic medicine. American Journal of Human Genetics 85 , 142-154 (2009). 47. 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). 48. 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).

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