Suzanne de Bruijn

116 Chapter 3.1 REFERENCES 1. World Health Organisation. The global burden of disease: 2004 update. (Geneva: World Health Organization, 2008). 2. 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). 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. Van Camp, G. & Smith, R. Hereditary Hearing Loss Homepage. Available from: https:// hereditaryhearingloss.org . 5. Gates, G.A., Couropmitree, N.N. & Myers, R.H. Genetic associations in age-related hearing thresholds. Archives of Otolaryngology–Head & Neck Surgery 125 , 654-659 (1999). 6. Karlsson, K.K., Harris, J.R. & Svartengren, M. Description and primary results from an audiometric study of male twins. Ear and Hearing 18 , 114-120 (1997). 7. Wolber, L.E., Steves, C.J., Spector, T.D. & Williams, F.M.K. Hearing ability with age in northern European women: a newweb-based approach to genetic studies. PLoS One 7 , e35500 (2012). 8. Lewis, M.A., Nolan, L.S., Cadge, B.A., Matthews, L.J., Schulte, B.A., Dubno, J.R. et al. Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. BMC Medical Genomics 11 , 77 (2018). 9. Kunst, H., Marres, H., Huygen, P., Van Duijnhoven, G., Krebsova, A., Van der Velde, S. et al. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clinical Otolaryngology & Allied Sciences 25 , 45-54 (2000). 10. De Brouwer, A.P.M., Kunst, H.P.M., Krebsova, A., van Asseldonk, K., Reis, A., Snoeckx, R.L. et al. Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. American Journal of Medical Genetics Part A 137A , 41-46 (2005). 11. Diaz-Horta, O., Subasioglu-Uzak, A., Grati, M.h., DeSmidt, A., Foster, J., Cao, L. et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proceedings of the National Academy of Sciences of the United States of America 111 , 9864-9868 (2014). 12. Kircher, M.,Witten, D.M., Jain, P., O'Roak, B.J., Cooper, G.M. & Shendure, J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics 46 , 310- 315 (2014). 13. Vaser, R., Adusumalli, S., Leng, S.N., Sikic, M. & Ng, P.C. SIFT missense predictions for genomes. Nature Protocols 11 , 1 (2015). 14. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P. et al. A method and server for predicting damaging missense mutations. Nature Methods 7 , 248-249 (2010). 15. Schwarz, J.M., Cooper, D.N., Schuelke, M. & Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nature Methods 11 , 361 (2014).

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