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
11 - 20 of 45
- Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease(2020)
Authors: Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan M. Jones, Rui Chen, Michael E. Greenberg
Pages: 9001 - 9012 - Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Authors: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Brecht Guillemyn, Sarah De Jaegere, Rudy Van Coster
Pages: 426 - 436 - 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 - Identification of splice defects due to noncanonical splice site or deepU+2010intronic variants in ABCA4(2019)
Authors: Zeinab Fadaie, Mubeen Khan, Marta Del PozoU+2010Valero, Stéphanie S. Cornelis, Carmen Ayuso, Frans P. M. Cremers, Susanne Roosing, Rando Allikmets, Miriam Bauwens, Mohammad Ghofrani, et al.
Pages: 2365 - 2376 - 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 - Missing heritability in inherited blindness : ABCA4-associated disease as a model(2018)
Authors: Miriam Bauwens
- 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