Researcher
Miriam Bauwens
- Keywords:medical genomics, inherited blindness
- Disciplines:Medical genomics, Molecular diagnostics, Medical transcriptomics, Other clinical sciences not elsewhere classified, Palliative care and end-of-life care, Laboratory medicine, Other translational sciences, Regenerative medicine, Nursing, Other clinical sciences, Other basic sciences, Other paramedical sciences, Other health sciences, Other medical and health sciences
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Department of Pediatrics and medical genetics (Department)
Member
From12 Sep 2012 → 30 Sep 2018
Projects
1 - 3 of 3
- Role of the ultraconserved IRXA cluster in North Carolina Macular Dystrophy, a retinal enhanceropathyFrom1 Nov 2023 → TodayFunding: FWO fellowships
- An integrated CRISPR/iPSC-based approach to elucidate uncertain variation in RPE65, a target for gene therapyFrom1 Nov 2022 → TodayFunding: FWO Strategic Basic Research Grant
- Exploring the role of non-coding variation in hereditary blindness: Stargardt disease as a modelFrom1 Oct 2013 → 30 Sep 2017Funding: FWO fellowships, BOF - Other initiatives
Publications
21 - 30 of 45
- arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs(2017)
Authors: Kristof Van Schil, Miriam Bauwens, Sarah De Jaegere, Wouter Steyaert, Tom Sante
Pages: 457 - 466 - Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus(2017)Volume: 58
Authors: Miriam Bauwens, Riccardo Sangermano, Timothy Cherry, Jose Luis Gomez-Skarmeta, Nicole Weisschuh, Susanne Kohl, Frans Cremers
Number of pages: 1 - Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease(2017)
Authors: Sarah Naessens, Alejandro Garanto, Miriam Bauwens, Riccardo Sangermano, Irina Balikova, Frans Cremers, Rob Collin
Number of pages: 1 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2017)
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.
Number of pages: 1 - Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease(2016)
Authors: Riccardo Sangermano, Nathalie M Bax, Miriam Bauwens, L Ingeborgh Van den Born, Alejandro Garanto, Rob WJ Collin, Angelique SA Goercharn-Ramlal, Anke HA den Engelsman-van Dijk, Klaus Rohrschneider, Carel B Hoyng, et al.
Pages: 1375 - 1385 - Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination(2016)
Authors: Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, Chrysanthi Tsika, Styliani V Blazaki, et al.
Pages: 470 - 480 - Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms(2016)Volume: 57
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Miriam Bauwens, Hannah Verdin, Anja Kathrin Mayer, Susanne Kohl
Number of pages: 1 - An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients(2015)
Authors: Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, Susanne Kohl, Françoise Meire, Karin Dahan, Fanny Depasse, Sarah De Jaegere, Thomy De Ravel, Marjan De Rademaeker, et al.
Pages: 39 - 42 - Colour vision in Stargardt disease(2015)
Authors: Tine Vandenbroucke, Ronald Buyl, Julie De Zaeytijd, Miriam Bauwens, André Uvijls
Pages: 181 - 194 - Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus(2015)
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, SOPHIE WALRAEDT, Patricia Delbeke, Julie De Zaeytijd, Philippe Kestelyn, Françoise Meire, Hannah Verdin, Sally Hooghe, Prasoon Kumar Thakur, et al.
Pages: 1701 - 1710