Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Sangermano, R, Garanto, A, Khan, M, Runhart, E H, Bauwens, M, Bax, N M, van den Born, L I, Khan, M I, Cornelis, S S, Verheij, J B G M, Pott, J W R, Thiadens, A A H J, Klaver, C C W, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, K J, Raymond, F L, Webster, A R, Dhaenens, C M, Stöhr, H, Grassmann, F, Weber, B H F, Hoyng, C B, De Baere, E, Albert, S, Collin, R W J & Cremers, F P M 2019, 'Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides', Genetics in Medicine, vol. 21, no. 8, pp. 1751-1760. https://doi.org/10.1038/s41436-018-0414-9