Concepedia

Miriam Bauwens

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Publications

3

Citations

468

H-Index

3

Active since

2016

Affiliations

Radboud Institute for Molecular Life Sciences(Current)

Radboud University Nijmegen

Radboud University Medical Center

Ghent University Hospital

University of Cambridge

Miriam Bauwens is an author at Radboud Institute for Molecular Life Sciences specializing in gene expression, molecular genetics, and natural sciences.

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Publications per year

2016–2019

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 · 192 citations · Full text

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

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 · 118 citations

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