Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise HeonGiorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A Bergen, Jacoline B Ten Brink, Caroline C W Klaver, Lisbeth Tranebjærg, Nanna D Rendtorff, Sascha Vermeer, Jeroen J Smits, Ronald J E Pennings, Marco Aben, Jaap Oostrik, Galuh D N Astuti, Jordi Corominas Galbany, Hester Y Kroes, Milan Phan, Wendy A G van Zelst-Stams, Alberta A H J Thiadens, Joke B G M Verheij, Mary J van Schooneveld, Suzanne E de Bruijn, Catherina H Z Li, Carel B Hoyng, Christian Gilissen, Lisenka E L M Vissers, Frans P M Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Research output: Contribution to journal › Article › Research › peer-review

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Medicine & Life Sciences