Onderzoeker
Marieke De Bruyne
- Trefwoorden:Genetica
- Disciplines:Genetica, Immunogenetica, Klinische genetica en moleculaire diagnostiek
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 31 dec 2019 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf18 aug 2014 → 30 sep 2018
Publicaties
11 - 20 van 43
- Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum(2021)
Auteurs: Julie De Zaeytijd, Marieke De Bruyne
Pagina's: 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)
Auteurs: Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfride De Baere, Bart Leroy
Pagina's: 521 - 532 - Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene(2021)
Auteurs: Lynn Backers, Bram Parton, Marieke De Bruyne, Kris Van Den Bogaert, Filomeen Haerynck
Aantal pagina's: 1 - Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene(2021)
Auteurs: Lynn Backers, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, Kathleen Claes
Pagina's: 292 - 297 - Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss(2021)
Auteurs: 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)
Auteurs: Lynn Backers, Bram Parton, Marieke De Bruyne, Filomeen Haerynck
Aantal pagina's: 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)
Auteurs: 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)
Auteurs: 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)
Auteurs: 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.
Aantal pagina's: 1 - Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19(2020)
Auteurs: 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.