Publication
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
Genetics in Medicine, December 16, 2022
Authors:
Suzanne E.de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J.E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E.L.M. Vissers, L. Ingeborghvan den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing