Nathalie M. Bax

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

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Early-Onset Stargardt Disease

Stanley Lambertus, Ramon A. C. van Huet, Nathalie M. Bax et al. · Ophthalmology · 2014 · 157 citations · Full text

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Sílvia Albert, Alejandro Garanto, Riccardo Sangermano et al. · The American Journal of Human Genetics · 2018 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease

Riccardo Sangermano, Nathalie M. Bax, Miriam Bauwens et al. · Ophthalmology · 2016 · 119 citations

Life Sciences, Genetics, Molecular Biology +13

Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Michelle Hendriks, Virginie J. M. Verhoeven, Gabriëlle H.S. Buitendijk et al. · American Journal of Ophthalmology · 2017 · 100 citations · Full text

Medicine, Genetics, Ophthalmology +14