Article
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG advances - 13 Apr 2023
Reurink Janine, Weisschuh Nicole, Garanto Alejandro, Dockery Adrian, van den Born L Ingeborgh, Fajardy Isabelle, Haer-Wigman Lonneke, Kohl Susanne, Wissinger Bernd, Farrar G Jane, Ben-Yosef Tamar, Pfiffner Fatma Kivrak, Berger Wolfgang, Weener Marianna E, Dudakova Lubica, Liskova Petra, Sharon Dror, Salameh Manar, Offenheim Ashley, Heon Elise, Girotto Giorgia, Gasparini Paolo, Morgan Anna, Bergen Arthur A, Ten Brink Jacoline B, Klaver Caroline C W, Tranebjærg Lisbeth, Rendtorff Nanna D, Vermeer Sascha, Smits Jeroen J, Pennings Ronald J E, Aben Marco, Oostrik Jaap, Astuti Galuh D N, Corominas Galbany Jordi, Kroes Hester Y, Phan Milan, van Zelst-Stams Wendy A G, Thiadens Alberta A H J, Verheij Joke B G M, van Schooneveld Mary J, de Bruijn Suzanne E, Li Catherina H Z, Hoyng Carel B, Gilissen Christian, Vissers Lisenka E L M, Cremers Frans P M, Kremer Hannie, van Wijk Erwin, Roosing Susanne
Abstract excerpt
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-associated disease and no or mono-allelic USH2A variants using whole genome sequencing (WGS) followed by an improved pipeline for variant interpretation to provide a conclusive...
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