Researcher
Sarah Naessens
- Disciplines:Laboratory medicine, Other translational sciences, Other clinical sciences, Other basic sciences, Other paramedical sciences, Other health sciences, Other medical and health sciences, Developmental genetics
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 31 Dec 2019 - Department of Pediatrics and medical genetics (Department)
Member
From1 Jan 2016 → 30 Sep 2018
Projects
1 - 1 of 1
- RESTORE: Restoring defective splicing of genes mutated in inherited blindnessFrom1 Jan 2016 → 31 Dec 2019Funding: FWO Strategic Basic Research Grant
Publications
1 - 10 of 14
- Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa(2019)
Authors: Sarah Naessens, Laurien Ruysschaert, Steve Lefever, Frauke Coppieters, Elfride De Baere
- ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Authors: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Toon Rosseel, et al.
Pages: 1761 - 1771 - Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2019)Volume: 27
Authors: Miriam Bauwens, Sarah Naessens, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd
Pages: 42 - 43 - Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases(2019)
Authors: Sarah Naessens
- The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond(2019)
Authors: Sarah Naessens, Julie De Zaeytijd, Frédéric Smeets
Pages: 539 - 551 - Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells(2019)Volume: 60
Authors: Sarah Naessens, Rob W Collin, Miriam Bauwens, Lonneke Duijkers, Irina Balikova, Alex Garanto
Number of pages: 1 - Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides(2019)
Authors: Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens, Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.
Pages: 1751 - 1760 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Alexander Aslanidis, Anja Kathrin Mayer, Miriam Bauwens, Hannah Verdin, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, et al.
Pages: 202 - 213 - Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease(2018)
Authors: Sarah Naessens, Alejandro Garanto, Miriam Bauwens, Riccardo Sangermano, Irina Balikova, Frans Cremers, Rob Collin
Number of pages: 1 - Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes(2018)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Nuria Gruartmoner Roura, Katharina Dannhausen, Sarah De Jaegere, Maxim Vanpanteghem, Marcus Karlstetter, Bryan Tsou, Thomas Langmann, et al.
Number of pages: 1