Sarah Naessens

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

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele et al. · Genetics in Medicine · 2017 · 66 citations · Full text

Copy-number Variations, Genetics, Complex Cnvs +18

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

Sarah Naessens, Laurien Ruysschaert, Steve Lefever et al. · Genes · 2019 · 23 citations · Full text

The N‐terminal p.(Ser38Cys) <i>TIMP3</i> mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens, Julie De Zaeytijd, Delfien Syx et al. · Human Mutation · 2019 · 12 citations · Full text

Molecular Biology, Disease Gene Identification, Sorsby Fundus Dystrophy +16