Suzanne de Bruijn

73 The impact of modern technologies on molecular diagnostics 156. Brandt, T., Sack, L.M., Arjona, D., Tan, D., Mei, H., Cui, H. et al. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genetics in Medicine 22 , 336-344 (2020). 157. Dixon, J.R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y. et al. Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485 , 376-380 (2012). 158. Spielmann, M., Lupiáñez, D.G. & Mundlos, S. Structural variation in the 3D genome. Nature Reviews Genetics 19 , 453-467 (2018). 159. Franke, M., Ibrahim, D.M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R. et al. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature 538 , 265-269 (2016). 160. Ibrahim, D.M. &Mundlos, S. Three-dimensional chromatin in disease: What holds us together and what drives us apart? Current Opinion in Cell Biology 64 , 1-9 (2020). 161. Van Schil, K., Naessens, S., Van de Sompele, S., Carron, M., Aslanidis, A., Van Cauwenbergh, C. et al. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genetics in Medicine 20 , 202-213 (2018). 162. Shearer, A.E., Kolbe, D.L., Azaiez, H., Sloan, C.M., Frees, K.L., Weaver, A.E. et al. Copy number variants are a common cause of non-syndromic hearing loss. Genome Medicine 6 , 37 (2014). 163. World Health Organisation. Deafness and hearing loss: Key facts 2021 update. (Geneva: World Health Organization, 2021). 164. Rosenbloom, K.R., Sloan, C.A., Malladi, V.S., Dreszer, T.R., Learned, K., Kirkup, V.M. et al. ENCODE data in the UCSC Genome Browser: year 5 update. Nucleic Acids Research 41 , D56-D63 (2013). 165. Lizio, M., Abugessaisa, I., Noguchi, S., Kondo, A., Hasegawa, A., Hon, C.C. et al. Update of the FANTOM web resource: expansion to provide additional transcriptome atlases. Nucleic Acids Research 47 , D752-D758 (2018). 166. Nikopoulos, K., Cisarova, K., Quinodoz, M., Koskiniemi-Kuendig, H., Miyake, N., Farinelli, P. et al. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications 10 , 2884 (2019). 167. Yan, D. & Liu, X.-Z. Modifiers of hearing impairment in humans and mice. Current Genomics 11 , 269-278 (2010). 168. Norman, C.S., O'Gorman, L., Gibson, J., Pengelly, R.J., Baralle, D., Ratnayaka, J.A. et al. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Scientific Reports 7 , 4415 (2017). 169. Grønskov, K., Jespersgaard, C., Bruun, G.H., Harris, P., Brøndum-Nielsen, K., Andresen, B.S. et al. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. Scientific Reports 9 , 645 (2019). 170. Green, D.J., Sallah, S.R., Ellingford, J.M., Lovell, S.C. & Sergouniotis, P.I. Variability in gene expression is associated with incomplete penetrance in inherited eye disorders. Genes (Basel) 11 , 179 (2020). 171. Llavona, P., Pinelli, M., Mutarelli, M., Marwah, V.S., Schimpf-Linzenbold, S., Thaler, S. et al. Allelic expression imbalance in the human retinal transcriptome and potential impact on inherited retinal diseases. Genes (Basel) 8 , 283 (2017).