Researcher
Marieke De Bruyne
- Keywords:Clinical genetics
- Disciplines:Genetics, Immunogenetics, Clinical genetics and molecular diagnostics
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 31 Dec 2019 - Department of Pediatrics and medical genetics (Department)
Member
From18 Aug 2014 → 30 Sep 2018
Publications
11 - 20 of 43
- Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum(2021)
Authors: Julie De Zaeytijd, Marieke De Bruyne
Pages: 1346 - 1355 - Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene(2021)
Authors: Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfride De Baere, Bart Leroy
Pages: 521 - 532 - Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene(2021)
Authors: Lynn Backers, Bram Parton, Marieke De Bruyne, Kris Van Den Bogaert, Filomeen Haerynck
Number of pages: 1 - Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene(2021)
Authors: Lynn Backers, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, Kathleen Claes
Pages: 292 - 297 - 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.
- Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition(2021)
Authors: Lynn Backers, Bram Parton, Marieke De Bruyne, Filomeen Haerynck
Number of pages: 1 - A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair(2021)
Authors: Steven Strubbe, Marieke De Bruyne, Ulrich Pannicke, Elien Beyls, Bart Vandekerckhove, Georges Leclercq, Elfride De Baere, Victoria Bordon, Anne Vral, Klaus Schwarz, et al.
- Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome(2020)
Authors: Vivien Béziat, Simon Tavernier, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, et al.
- Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing(2020)
Authors: Giulia Ascari, Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd, Valerie Baumont, Marieke De Bruyne, Toon Rosseel, Mattias Van Heetvelde, Tim De Pooter, Wouter De Coster, et al.
Number of pages: 1 - Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19(2020)
Authors: Karel Van Damme, Elisabeth De Leeuw, Cédric Bosteels, Bastiaan Maes, Marieke De Bruyne, Delfien Bogaert, Victor Bosteels, Levi Hoste, Leslie Naesens, P Maes, et al.