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 42
- 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, Sandro Banfi, et al.
- 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
- 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: 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
- 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, Gavin Arno, Julie Jacob, Toon Rosseel, Tim De Pooter, Peter De Rijk, 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, Marieke De Bruyne, Filomeen Haerynck
Aantal pagina's: 1 - Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant(2021)
Auteurs: Ine Strubbe, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele
- 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 - 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