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)
Lid
Vanaf1 okt 2022 → Heden - Medische Genetica (MEDGEN) (Onderzoeksgroep)
Lid
Vanaf1 jan 2020 → 30 sep 2022 - Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 16 sep 2019 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 apr 2012 → 30 sep 2018
Publicaties
11 - 20 van 31
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene(2017)Volume: 58
Auteurs: Basamat Almoallem Mohammed H, Kristof Van Schil, Laila Jeddawi, Bart Leroy, Frauke Coppieters, Elfride De Baere
Pagina's: 1242 - 1242 - Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations(2016)
Auteurs: Kristof Van Schil
Pagina's: 165 - 165 - Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa(2016)
Auteurs: Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Fanny Depasse, Thomas Langmann
Aantal pagina's: 1 - Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa(2016)
Auteurs: Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Fanny Depasse, Thomas Langmann
Aantal pagina's: 1 - Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination(2016)
Auteurs: Delfien Bogaert, Kristof Van Schil, Tom Taghon, Victoria Bordon Maria, Melissa Dullaers, Filomeen Haerynck
Pagina's: 93 - 96 - Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms(2016)Volume: 57
Auteurs: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Miriam Bauwens, Hannah Verdin, Anja Kathrin Mayer, Susanne Kohl
Aantal pagina's: 1 - JAK2 deficiency as a novel cause of impaired Th17 immunity(2016)
Auteurs: FILOMEEN HAERYNCK, Delfien Bogaert, Kristof Van Schil, Marieke De Bruyne, Margot Hagendorens, Frans De Baets, Victoria Bordon Maria, Karim Vermaelen, Jan Tavernier, Melissa Dullaers
Aantal pagina's: 1 - Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7(2016)
Auteurs: Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Fanny Depasse, Thomas Langmann
- A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa(2015)
Auteurs: Kristof Van Schil, B Jeroen Klevering, Jan Willem R Pott, Dikla Bandah-Rozenfeld, Marijke N Zonneveld-Vrieling, Dror Sharon, Anneke I den Hollander, Frans PM Cremers, Rob W Collin, L Ingeborgh van den Born
Pagina's: 7418 - 7426 - Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa(2015)Volume: 56
Auteurs: Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Fanny Depasse, Thomas Langmann
Aantal pagina's: 1