Onderzoeker
Stijn Van de Sompele
- Disciplines:Laboratoriumgeneeskunde, Andere basiswetenschappen, Klinische genetica en moleculaire diagnostiek
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 30 sep 2022 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 2016 → 30 sep 2018
Projecten
1 - 2 of 2
- Ophelderen van de rol van cis-regulatie en van ultra-geconserveerde niet-coderende elementen, geassocieerd met het choroideremie gen CHMVanaf1 okt 2018 → 30 sep 2022Financiering: FWO mandaten
- EYE-splice: verkrijgen van meer inzicht in de rol van trans-acting pre-mRNA splicing dynamica in de pathogenese van erfelijke blindheid. Vanaf1 okt 2016 → 30 sep 2018Financiering: BOF - Nieuwe Onderzoeksinitiatieven
Publicaties
1 - 10 van 19
- A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)(2021)
Auteurs: 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.
Pagina's: 518 - 527 - 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
- 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)
Auteurs: 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.
Aantal pagina's: 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
Auteurs: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Pagina's: 54 - 54 - Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Auteurs: 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.
Pagina's: 1319 - 1329 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Auteurs: 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.
Pagina's: 202 - 213 - Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease(2018)
Auteurs: 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.
Aantal pagina's: 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)
Auteurs: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Aantal pagina's: 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)
Auteurs: 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.
Aantal pagina's: 1 - Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2017)
Auteurs: 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.
Aantal pagina's: 1