Concepedia

Miriam Bauwens

MB

Statistics

Publications

3

Citations

328

H-Index

3

Active since

2016

Affiliations

Radboud Institute for Molecular Life Sciences(Current)

Radboud University Nijmegen

Radboud University Medical Center

Rotterdam Eye Hospital

Ghent University Hospital

Miriam Bauwens is an author at Radboud Institute for Molecular Life Sciences specializing in genetics, genetic disorders, and molecular genetics.

Publications per year

2016–2026

3

Publications

3

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

, , +17

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

, , +13

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et al. · Nature Genetics · 2026 · 11 citations · Full text

, , +16

1–3 of 3