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
1 - 10 of 45
- Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis(2023)
Authors: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Sandro Banfi, et al.
- An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy(2023)
Authors: Eline Van Vooren, Suzanne Kohl, Carlo Rivolta, Bart Leroy, Miriam Bauwens, Elfride De Baere
Number of pages: 1 - CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis(2023)
Authors: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Kaeseberg, Melanie Jaeger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, et al.
- Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci(2023)
Authors: Eva D'haene, Pedro Manuel Martinez-Garcia, Victor Lopez Soriano, Soraya Kalayanamontri, Alfredo Dueñas Rey, Lies Vantomme, Sarah Vergult, Ana Bastos Neto, José Luis Gomez-Skarmeta, Juan Ramon Martinez-Morales, et al.
Number of pages: 1 - Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium(2023)Volume: 64
Authors: Eva D'haene, Pedro Martinez-Garcia, Victor Lopez Soriano, Miriam Bauwens, Lies Vantomme, Sarah Vergult, Juan Martinez-Morales, Juan Tena, Elfride De Baere
Number of pages: 1 - Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework(2023)
Authors: Stephanie Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere, Robert B. Hufnagel, Claire-Marie Dhaenens, Frans P. M. Cremers
- Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity(2022)
Authors: Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout, Frans P.M. Cremers
Pages: 498 - 507 - An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy(2022)
Authors: Eline Van Vooren, Suzanne Kohl, Bart Leroy, Miriam Bauwens, Elfride De Baere
Pages: 27 - 27 - Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss(2021)
Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Gavin Arno, Julie Jacob, Toon Rosseel, Tim De Pooter, et al.
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics(2020)
Authors: Mubeen Khan, Stephanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Sandro Banfi, et al.
Pages: 1235 - 1246