Sarah De Jaegere

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

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire et al. · Human Mutation · 2010 · 146 citations · Full text

Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

Barbara D′haene, Françoise Meire, Ilse Claerhout et al. · Investigative Ophthalmology & Visual Science · 2010 · 87 citations · Full text

An Augmented<i>ABCA4</i>Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh et al. · Human Mutation · 2014 · 67 citations

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