Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. حسب Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce

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Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290 حسب Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin, Alejandro Garanto

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Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa حسب P Martin van Hagen, L Ingeborgh van den Born, Caroline C W Klaver, Alberta A H J Thiadens, Pam A T Heutinck, Jan A M van Laar, Dzenita Smailhodzic, Magda A Meester-Smoor, Virginie J M Verhoeven

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases حسب Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing

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Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases حسب Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer

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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt... حسب Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, Yuquan Wen, Gerald A Fishman, L Ingeborgh van den Born, Ava Bittner, Kristen Bowles, Emily C Fletcher, Frederick T Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A Saperstein, Ronald A Schuchard, Claire Barnes, Wadih Zein, Ditta Zobor, David G Birch, Janine D Mendola, Eberhart Zrenner, RET IRD 01 Study Group

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

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes حسب Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

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