Optical genome mapping and revisiting short-read genome sequencing data reveal previously
overlooked structural variants disrupting retinal disease−associated genes
de Bruijn, Suzanne E. ✉; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovács, Árpád Ferenc [Kovács, Árpád Ferenc (genetika, immunol...), author] II. Department
of Pediatrics (SU / FM / C); Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J.E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E.L.M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P.M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne