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American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
Investigative Ophthalmology & Visual Science|March 14, 2017
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt DiseaseMoritz Lindner, Stanley Lambertus, Matthias M Mauschitz, et al.
Plos One|March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt diseaseStanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Investigative Ophthalmology & Visual Science|October 18, 2014
Foveal sparing in Stargardt diseaseRamon A C van Huet, Nathalie M Bax, Sarah C Westeneng-Van Haaften, et al.
Investigative Ophthalmology & Visual Science|October 5, 2016
Progression of Late-Onset Stargardt DiseaseStanley Lambertus, Moritz Lindner, Nathalie M Bax, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Investigative Ophthalmology & Visual Science|October 17, 2019
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 AllelesEsmee H Runhart, Dyon Valkenburg, Stéphanie S Cornelis, et al.
Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.
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