Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease by Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype by Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

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