Onderzoeker
Kristof Van Schil
- Trefwoorden (University of Antwerp):Geneeskunde
- Disciplines (University of Antwerp):Klinische genetica en moleculaire diagnostiek, Genetica
- Disciplines (Ghent University):Genetica, Oogheelkunde
- Zie ook: Kristof Van Schil (Universiteit Antwerpen)
Affiliaties
- Medische Genetica (MEDGEN) (Onderzoeksgroep)
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Vanaf1 okt 2022 → Heden - Medische Genetica (MEDGEN) (Onderzoeksgroep)
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Vanaf1 jan 2020 → 30 sep 2022 - Vakgroep Biomoleculaire Geneeskunde (Departement)
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Vanaf1 okt 2018 → 16 sep 2019 - Vakgroep Pediatrie en genetica (Departement)
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Vanaf1 apr 2012 → 30 sep 2018
Publicaties
1 - 10 van 31
- Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement(2020)
Auteurs: Sabrina Mechaussier, Basamat Almoallem Mohammed H, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, et al.
Pagina's: 859 - 871 - 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 - arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs(2017)
Auteurs: Kristof Van Schil, Miriam Bauwens, Sarah De Jaegere, Wouter Steyaert, Tom Sante
Pagina's: 457 - 466 - NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases(2017)
Auteurs: Kristof Van Schil
- 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