Researcher
Stijn Van de Sompele
- Disciplines:Laboratory medicine, Other basic sciences, Clinical genetics and molecular diagnostics
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 30 Sep 2022 - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2016 → 30 Sep 2018
Projects
1 - 2 of 2
- Elucidating the role of cis-regulation and of ultraconserved non-coding elements associated with the choroideremia gene CHMFrom1 Oct 2018 → 30 Sep 2022Funding: FWO fellowships
- EYE-splice: towards more insights into the role of trans-acting premRNA splicing dynamics in the pathogenesis of inherited blindnessFrom1 Oct 2016 → 30 Sep 2018Funding: BOF - Doctoral projects
Publications
1 - 10 of 19
- A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)(2021)
Authors: Kent W. Small, Stijn Van de Sompele, Karen Nuytemans, Andrea Vincent, Ozge Ozalp Yuregir, Emine Ciloglu, Cahfer Sariyildiz, Toon Rosseel, Jessica Avetisjan, Nitin Udar, et al.
Pages: 518 - 527 - Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant(2021)
Authors: Ine Strubbe, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele
- Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease(2020)
Authors: Stijn Van de Sompele, Thijs Van der Snickt, Eva D'haene, Sarah Vergult, Petra Liskova, Carlo Rivolta, Jenneke van den Ende, Arthur Bergen, Irina Balikova, Julie De Zaeytijd, et al.
Number of pages: 1 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes(2019)Volume: 27
Authors: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Pages: 54 - 54 - Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Authors: Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, Kamron N. Khan, et al.
Pages: 1319 - 1329 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Alexander Aslanidis, Anja Kathrin Mayer, Miriam Bauwens, Hannah Verdin, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, et al.
Pages: 202 - 213 - Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease(2018)
Authors: Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Number of pages: 1 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes(2018)
Authors: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Number of pages: 1 - Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes(2018)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Nuria Gruartmoner Roura, Katharina Dannhausen, Sarah De Jaegere, Maxim Vanpanteghem, Marcus Karlstetter, Bryan Tsou, Thomas Langmann, et al.
Number of pages: 1 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2017)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Alexander Aslanidis, Anja Kathrin Mayer, Miriam Bauwens, Hannah Verdin, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, et al.
Number of pages: 1