January 14, 2019 article Open access Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides Genetics in Medicine DOI: 10.1038/s41436-018-0414-9 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 16 stored of 194 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease 2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 8 citations Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics 2024 Therapeutic Advances in Rare Disease article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access 9 citations Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Journal of Translational Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 10 citations Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing 2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 10 citations Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C 2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 41 citations Additional file 7 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 5 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 6 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 3 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 8 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 2 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Additional file 4 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 0 citations Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides 2022 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access 55 citations Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4 2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 1 citations Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry 2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 36 citations Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent 143 citations 16 results References 0