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
1 - 10 van 44
- Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases(2023)Volume: 64
Auteurs: Marta del Pozo Valero, Miriam Bauwens, Marieke De Bruyne, Filip Van Den Broeck, Quinten Quinten, Audrey Meunier, Thomy de Ravel, Joke Ruys, Mattias Van Heetvelde, Irina Balikova, et al.
Aantal pagina's: 1 - A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease(2023)Volume: 64
Auteurs: Alfredo Dueñas Rey, Manon Bouckaert, Marta del Pozo Valero, Marieke De Bruyne, Mattias Van Heetvelde, Jamie Ellingford, Gavin Arno, Andrew Webster, Carmen Ayuso, Carlo Rivolta, et al.
Aantal pagina's: 1 - Central nervous system manifestations of LRBA deficiency : case report of two siblings and literature review(2023)
Auteurs: T. C. Mangodt, K. Vanden Driessche, K. K. Norga, N. Moes, Marieke De Bruyne, Filomeen Haerynck, Laura Teresa Bordon Viera, A. C. Jansen, A. I. Jonckheere
- Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis(2023)
Auteurs: 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, Elfride De Baere, et al.
- 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)
Auteurs: Miriam Bauwens, Lonneke Haer-Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere, Robert B. Hufnagel, Claire-Marie Dhaenens, Frans P. M. Cremers
- Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss(2022)Volume: 30
Auteurs: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, et al.
Pagina's: 45 - 45 - Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement(2022)
Auteurs: Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, PATRICK VERLOO, Benson Ogunjimi, Dimitri Hemelsoet, Levi Hoste, et al.
Pagina's: 962 - 974 - GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141(2022)
Auteurs: Leslie Naesens, Santoshi Muppala, Dhiraj Acharya, Josephine Nemegeer, Delfien Bogaert, Jung-Hyun Lee, Katrien Staes, Veronique Debacker, Pieter De Bleser, Marieke De Bruyne, et al.
- Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition(2021)
Auteurs: Lynn Backers, Bram Parton, Mattias Van Heetvelde, Marieke De Bruyne, Kim De Leeneer, Simon Tavernier, Anne Vral, Filomeen Haerynck, Kathleen Claes
Aantal pagina's: 1 - Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer(2021)
Auteurs: Lynn Backers, Bram Parton, Mattias Van Heetvelde, Marieke De Bruyne, Kim De Leeneer, Anne Vral, Filomeen Haerynck, Kathleen Claes
Aantal pagina's: 1