Onderzoeker
Sarah Naessens
- Disciplines:Laboratoriumgeneeskunde, Andere translationele wetenschappen, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen, Ontwikkelingsgenetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 31 dec 2019 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 jan 2016 → 30 sep 2018
Projecten
1 - 1 of 1
- RESTORE: herstel van abnormale splicing in genen betrokken bij erfelijke blindheid
RESTORE: herstel van abnormale splicing in genen betrokken bij erfelijke blindheidVanaf1 jan 2016 → 31 dec 2019Financiering: FWO Strategische Onderzoeksbeurs
Publicaties
1 - 10 van 14
- Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa(2019)
Auteurs: 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)
Auteurs: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Toon Rosseel, et al.
Pagina's: 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
Auteurs: Miriam Bauwens, Sarah Naessens, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd
Pagina's: 42 - 43 - Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases(2019)
Auteurs: Sarah Naessens
- The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond(2019)
Auteurs: Sarah Naessens, Julie De Zaeytijd, Frédéric Smeets
Pagina's: 539 - 551 - Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells(2019)Volume: 60
Auteurs: Sarah Naessens, Rob W Collin, Miriam Bauwens, Lonneke Duijkers, Irina Balikova, Alex Garanto
Aantal pagina's: 1 - Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides(2019)
Auteurs: 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.
Pagina's: 1751 - 1760 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Auteurs: 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.
Pagina's: 202 - 213 - Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease(2018)
Auteurs: Sarah Naessens, Alejandro Garanto, Miriam Bauwens, Riccardo Sangermano, Irina Balikova, Frans Cremers, Rob Collin
Aantal pagina's: 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)
Auteurs: 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.
Aantal pagina's: 1