Researcher
Brecht Guillemyn
- Disciplines:Palliative care and end-of-life care, Laboratory medicine, Other translational sciences, Clinical genetics and molecular diagnostics, Regenerative medicine, Nursing, Other clinical sciences, Other basic sciences, Other paramedical sciences, Other health sciences, Other medical and health sciences
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 25 Sep 2022 - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2011 → 30 Sep 2018
Publications
1 - 10 of 24
- Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta(2022)
Authors: Brecht Guillemyn
- Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta(2022)Volume: 30
Authors: 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.
Pages: 169 - 169 - A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract(2022)
Authors: 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.
Number of pages: 1 - Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta(2021)
Authors: 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)
Authors: 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)
Authors: 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)
Authors: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pages: 998 - 1011 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Authors: 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.
Pages: 374 - 374 - Lack of bone mineralization in a TANGO1 deficient patient(2020)Volume: 28
Authors: Brecht Guillemyn, S. Nampoothiri, O. Foresti, I. Raote, V. Malhotra, Fransiska Malfait
Pages: 254 - 255 - Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Authors: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Brecht Guillemyn, Sarah De Jaegere, Rudy Van Coster
Pages: 426 - 436