Suzanne de Bruijn
70 Chapter 1.2 110. Becirovic, E., Ebermann, I., Nagy, D., Zrenner, E., Seeliger, M.W. & Bolz, H.J. Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. Human Mutation 29 , 452 (2008). 111. Zhang, L., Cheng, J., Zhou, Q., Khan, M.A., Fu, J., Duan, C. et al. Targeted next-generation sequencing identified novel compound heterozygous variants in the CDH23 gene causing Usher syndrome type ID in a Chinese patient. Frontiers in Genetics 11 , 422 (2020). 112. Molina-Ramírez, L.P., Lenassi, E., Ellingford, J.M., Sergouniotis, P.I., Ramsden, S.C., Bruce, I.A. et al. Establishing genotype-phenotype correlation in USH2A-related disorders to personalize audiological surveillance and rehabilitation. Otology & Neurotology 41 , 431-437 (2020). 113. Rivolta, C., Sweklo, E.A., Berson, E.L. & Dryja, T.P. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. American Journal of Human Genetics 66 , 1975-1978 (2000). 114. Tatour, Y. & Ben-Yosef, T. Syndromic inherited retinal diseases: Genetic, clinical and diagnostic aspects. Diagnostics (Basel) 10 , 779 (2020). 115. Gettelfinger, J.D. & Dahl, J.P. Syndromic hearing loss: A brief review of common presentations and genetics. Journal of Pediatric Genetics 7 , 1-8 (2018). 116. 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). 117. Shen, J., Scheffer, D.I., Kwan, K.Y. & Corey, D.P. SHIELD: an integrative gene expression database for inner ear research. Database (Oxford) 2015 , bav071 (2015). 118. gEAR portal. Available from: https://umgear.org/. 119. Ratnapriya, R., Sosina, O.A., Starostik, M.R., Kwicklis, M., Kapphahn, R.J., Fritsche, L.G. et al. Retinal transcriptome and eQTL analyses identify genes associated with age-relatedmacular degeneration. Nature Genetics 51 , 606-610 (2019). 120. Szklarczyk, D., Gable, A.L., Lyon, D., Junge, A., Wyder, S., Huerta-Cepas, J. et al. STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets. Nucleic Acids Research 47 , D607-D613 (2019). 121. Sobreira, N., Schiettecatte, F., Valle, D. & Hamosh, A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Human Mutation 36 , 928-930 (2015). 122. The European Retinal Disease Consortium (ERDC). Available from: https://www.erdc.info/. 123. Di Stazio, M., Morgan, A., Brumat, M., Bassani, S., Dell'Orco, D., Marino, V. et al. New age- related hearing loss candidate genes in humans: an ongoing challenge. Gene 742 , 144561 (2020). 124. Astuti, G.D.N., van den Born, L.I., Khan, M.I., Hamel, C.P., Bocquet, B., Manes, G. et al. Identification of inherited retinal disease-associated genetic variants in 11 candidate genes. Genes (Basel) 9 , 21 (2018). 125. Collins, R.L., Brand, H., Karczewski, K.J., Zhao, X., Alföldi, J., Francioli, L.C. et al. A structural variation reference for medical and population genetics. Nature 581 , 444-451 (2020).
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