Onderzoeker
Sofie Symoens
- Disciplines:Epigenetica, Klinische genetica en moleculaire diagnostiek, Immunogenetica, Genetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 apr 2001 → 30 sep 2018
Publicaties
1 - 10 van 26
- Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders(2023)
Auteurs: Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers, et al.
- Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases(2022)Volume: 30
Auteurs: Josephine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valerie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, et al.
Pagina's: 472 - 472 - Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA(2022)
Auteurs: Ilse Meerschaut, Wouter Steyaert, Thierry Bové, Katrien Francois, Thomas Martens, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Kristof Vandekerckhove, et al.
- EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis(2022)
Auteurs: Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, et al.
Pagina's: 2230 - 2252 - 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 - Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene(2022)Volume: 9
Auteurs: L Janssens, J De Puydt, Sofie Symoens, Jan De Bleecker
Pagina's: S296 - S296 - 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.
- Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers(2021)
Auteurs: Josephine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valerie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, et al.
- Loss of TANGO1 leads to absence of bone mineralization(2021)
Auteurs: Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, Fransiska Malfait, Sofie Symoens
- Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen(2021)
Auteurs: Tibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, Ingrid Hausser, Geert Mortier, Jonathan Zonana, Sofie Symoens, Peter H. Byers, Fransiska Malfait
Pagina's: 2378 - 2385