Sangermano, RiccardoGaranto, AlejandroKhan, MubeenRunhart, Esmee H.Bauwens, MiriamBax, Nathalie M.van den Born, L. IngeborghKhan, Muhammad ImranCornelis, Stéphanie S.Verheij, Joke B.G.M.Pott, Jan Willem R.Thiadens, Alberta A.H.J.Klaver, Caroline C.W.Puech, BernardMeunier, IsabelleNaessens, SarahArno, GavinFakin, AnaCarss, Keren J.Raymond, F. LucyWebster, Andrew R.Dhaenens, Claire MarieStöhr, HeidiGrassmann, FelixWeber, Bernhard H.F.Hoyng, Carel B.De Baere, ElfrideAlbert, SilviaCollin, Rob W.J.Cremers, Frans P.M.2022-02-242022-02-242019-08Sangermano, 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/s41436-018-0414-91098-3600ORCID: /0000-0003-1390-7528/work/79064662https://hdl.handle.net/2164/18131We thank Ellen Blokland, Lonneke Duijkers, Duaa Elmelik, Anita Hoogendoorn, Marlie Jacobs-Camps, Saskia van der Velde-Visser, and Marijke Zonneveld-Vrieling for technical assistance. We thank Sabine Defoort, Hélène Dollfus, Isabelle Drumare, Christian P. Hamel, Karsten Hufendiek, Cord Huchzermeyer, Herbert Jägle, Ulrich Kellner, Philipp Rating, Klaus Rüther, Eric Souied, Georg Spital, and Xavier Zanlonghi for their cooperation and ascertaining STGD1 cases. This work was supported by the FP7-PEOPLE-2012-ITN programme EyeTN, agreement 317472 (to F.P.M.C.); the Macula Vision Research Foundation (to F.P.M.C.); the Foundation Fighting Blindness USA, grant no. PPA-0517-0717-RAD (to A.G., C.B.H., F.P.M.C., R.W.J.C., and S.A.); the RP Fighting Blindness UK (RetinaUK), grant no. GR591 (to F.P.M.C. and S.A.); the Rotterdamse Stichting Blindenbelangen, the Stichting Blindenhulp, and the Stichting tot Verbetering van het Lot der Blinden (to F.P.M.C. and S.A.); and by the Landelijke Stichting voor Blinden en Slechtzienden, Macula Degeneratie fonds, and the Stichting Blinden-Penning, which contributed through Uitzicht 2016-12 (to F.P.M.C. and S.A.). This work was also supported by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Stichting Blinden-Penning, Landelijke Stichting voor Blinden en Slechtzienden, Stichting Oogfonds Nederland, Stichting Macula Degeneratie Fonds, and Stichting Retina Nederland Fonds, which contributed through UitZicht 2015-31, together with the Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, Stichting tot Verbetering van het Lot der Blinden, Stichting voor Ooglijders, and Stichting Dowilvo (to A.G. and R.W.J.C.); the Stichting Macula Degeneratie Fonds; and the Stichting A.F. Deutman Researchfonds Oogheelkunde (to C.B.H.). This work was also supported by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid and Landelijke Stichting voor Blinden en Slechtzienden, which contributed through UitZicht 2014-13, together with the Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, and the Stichting tot Verbetering van het Lot der Blinden (to F.P.M.C.), the Ghent University Research Fund (BOF15/GOA/011), the Research Foundation Flanders (FVO) G0C6715N, and the Hercules Foundation AUGE/13/023 and JED Foundation to E.D.B. M.B. was PhD fellow of the FWO and recipient of a grant of the funds for Research in Ophthalmology (FRO). E.D.B. is Senior Clinical Investigator of the FWO (1802215N). This work was also supported by the National Institute for Health Research (NIHR) Biomedical Centre at Moorfields and UCL Institute of Ophthalmology (to A.W.), UK NIHR Rare Disease Translational Research Consortium (to G.A. and A.W.), NIHR for the NIHR BioResource (RG65966) (to F.L.R.) by grants from the Federal Ministry of Education and Research (BMBF) (ref. IDs 01GM0851 and 01GM1108B) (to B.H.F.W.). G.A. is supported by a Fight for Sight UK Early Career Investigator Award. The funding organizations had no role in the design or conduct of this research, and provided unrestricted grants. This study made use of data generated by the Genome of the Netherlands Project. Funding for the project was provided by the Netherlands Organization for Scientific Research under award number 184021007, dated 9 July 2009 and made available as a Rainbow Project of the Biobanking and Biomolecular Research Infrastructure Netherlands (BBMRI-NL). Samples where contributed by LifeLines (http://lifelines.nl/lifelines-research/general), the Leiden Longevity Study (http://www.healthy-ageing.nl; http://www.langleven.net), the Netherlands Twin Registry (NTR: http://www.tweelingenregister.org), the Rotterdam studies (http://www.erasmus-epidemiology.nl/rotterdamstudy), and the Genetic Research in Isolated Populations program (http://www.epib.nl/research/geneticepi/research.html#gip). The sequencing was carried out in collaboration with the Beijing Institute for Genomics (BGI).10125200engABCA4antisense oligonucleotidedeep-intronic variantmissing heritabilityStargardt diseaseR MedicineQH426 GeneticsGenetics(clinical)National Institute for Health Research (NIHR)Supplementary DataRQH426Journal article10.1038/s41436-018-0414-9http://www.scopus.com/inward/record.url?scp=85059948953&partnerID=8YFLogxK218