Suzanne de Bruijn

333 Appendix LIST OF PUBLICATIONS Wesdorp M*, Murillo-Cuesta S*, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE , DOOFNL Consortium, Admiraal RJC, Yntema HG, vanWijk E, Del Castillo I, Serra P, Varela- Nieto I # , Pennings RJE # , Kremer H # . MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, Is essential for hearing in man and mouse. American Journal of Human Genetics 108 , 74-88 (2018). de Bruijn SE , Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S. Homozygous variants in KIAA1549 , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics 55 , 705-712 (2018). de Bruijn SE *, Fiorentino A*, Ottaviani D, Fanucchi S, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FJ, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S # , Hardcastle AJ # . Structural variants create new topological associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa. American Journal of Human Genetics 107 , 802- 814 (2020). de Bruijn SE *, Smits JJ*, Liu C, Lanting CP, Beynon AJ, Blankevoort J, Oostrik J, Koole W, de Vrieze E, Cremers CWRJ, Cremers FPM, Roosing S, Yntema HG, Kunst HPM, Zhao B, Pennings RJE # , Kremer H # . A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Journal of Medical Genetics 58 , 96-104 (2021) . de Bruijn SE *, Fadaie Z*, Cremers FPM, Kremer H, Roosing S. The impact of modern technologies on molecular diagnostic success rates, with a focus on inherited retinal dystrophy and hearing loss. International Journal of Molecular Sciences 22 , 2943-2969 (2021).