Suzanne de Bruijn

278 Chapter 5 SUPPLEMENTARY REFERENCES 1. Oza, A.M., DiStefano, M.T., Hemphill, S.E., Cushman, B.J., Grant, A.R., Siegert, R.K. et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation 39 , 1593-1613 (2018). 2. Fishilevich, S., Nudel, R., Rappaport, N., Hadar, R., Plaschkes, I., Iny Stein, T. et al. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. Database (Oxford) 2017 , bax028 (2017). 3. Gao, T. & Qian, J. EnhancerAtlas 2.0: an updated resource with enhancer annotation in 586 tissue/cell types across nine species. Nucleic Acids Research 48 , d58-d64 (2020). 4. Fornes, O., Castro-Mondragon, J.A., Khan, A., van der Lee, R., Zhang, X., Richmond, P.A. et al. JASPAR 2020: update of the open-access database of transcription factor binding profiles. Nucleic Acids Research 48 , d87-d92 (2020). 5. Stelzer, G., Rosen, N., Plaschkes, I., Zimmerman, S., Twik, M., Fishilevich, S. et al. The GeneCards suite: from gene data mining to disease genome sequence analyses. Current Protocols in Bioinformatics 54 , 1.30.1-1.30.33 (2016). 6. Pollard, K.S., Hubisz, M.J., Rosenbloom, K.R. & Siepel, A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Research 20 , 110-121 (2010). 7. Chao, J.R., Chattaraj, P., Munjal, T., Honda, K., King, K.A., Zalewski, C.K. et al. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct. BMC Medical Genetics 20 , 118 (2019).