Suzanne de Bruijn

93 Homozygous KIAA1549 variants are associated with retinitis pigmentosa REFERENCES 1. Hamel, C. Retinitis pigmentosa. Orphanet Journal of Rare Diseases 1 , 40-40 (2006). 2. Hartong, D.T., Berson, E.L. & Dryja, T.P. Retinitis pigmentosa. The Lancet 368 , 1795-1809 (2006). 3. RetNet. Available from: https://sph.uth.edu/retnet/. 4. Haer-Wigman, L., van Zelst-Stams, W.A.G., Pfundt, R., van den Born, L.I., Klaver, C.C.W., Verheij, J.B.G.M. et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. European Journal of Human Genetics 25 , 591-599 (2017). 5. Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A.O., Al-Owain, M. et al. Autozygome- guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Research 23 , 236-247 (2013). 6. McCulloch, D.L., Marmor, M.F., Brigell, M.G., Hamilton, R., Holder, G.E., Tzekov, R., and Bach, M. ISCEV Standard for full-field clinical electroretinography (2015 update). Documenta Ophthalmologica 130 , 1-12 (2015). 7. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 , 1754-1760 (2009). 8. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research 20 , 1297-1303 (2010). 9. Krumm, N., Sudmant, P.H., Ko, A., O'Roak, B.J., Malig, M., Coe, B.P. et al. Copy number variation detection and genotyping from exome sequence data. Genome Research 22 , 1525-1532 (2012). 10. Plagnol, V., Curtis, J., Epstein, M., Mok, K.Y., Stebbings, E., Grigoriadou, S. et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics 28 , 2747-2754 (2012). 11. Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G. et al. Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals. Nature Communications 11 , 2523 (2020). 12. Karczewski, K.J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D.M., Kavanagh, D. et al. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Research 45 , D840-D845 (2017). 13. Sherry, S.T., Ward, M.H., Kholodov, M., Baker, J., Phan, L., Smigielski, E.M. et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29 , 308-311 (2001). 14. 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). 15. Schindelin, J., Arganda-Carreras, I., Frise, E., Kaynig, V., Longair, M., Pietzsch, T. et al. Fiji - an Open Source platform for biological image analysis. Nature Methods 9 , 678-682 (2012).