Onderzoeker
Brecht Guillemyn
- Disciplines:Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Klinische genetica en moleculaire diagnostiek, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 25 sep 2022 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 2011 → 30 sep 2018
Publicaties
1 - 10 van 24
- Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta(2022)
Auteurs: Brecht Guillemyn
- Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta(2022)Volume: 30
Auteurs: Thao Tran Thao Tran, Rachel Keller, Brecht Guillemyn, Melanie Pepin, Jane Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Peter Witters, et al.
Pagina's: 169 - 169 - A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract(2022)
Auteurs: Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Sujatha Jagadeesh, Sofie Symoens, Fransiska Malfait, Delfien Syx, Filip Van Nieuwerburgh, Yannick Gansemans, et al.
Aantal pagina's: 1 - Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta(2021)
Auteurs: Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer, Sergei P. Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B. Gould, et al.
- Loss of TANGO1 leads to absence of bone mineralization(2021)
Auteurs: Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, Fransiska Malfait, Sofie Symoens
- Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta(2021)
Auteurs: Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Peter Witters, et al.
- Functional characterization of the first missense variant in CEP78, a founder allele associated with coneU+2010rod dystrophy, hearing loss and reduced male fertility(2020)
Auteurs: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pagina's: 998 - 1011 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Auteurs: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.
Pagina's: 374 - 374 - Lack of bone mineralization in a TANGO1 deficient patient(2020)Volume: 28
Auteurs: Brecht Guillemyn, S. Nampoothiri, O. Foresti, I. Raote, V. Malhotra, Fransiska Malfait
Pagina's: 254 - 255 - Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Auteurs: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Brecht Guillemyn, Sarah De Jaegere, Rudy Van Coster
Pagina's: 426 - 436