Researcher
Kristof Van Schil
- Keywords (University of Antwerp):Medicine
- Disciplines (University of Antwerp):Clinical genetics and molecular diagnostics, Genetics
- Disciplines (Ghent University):Genetics, Ophthalmology
Affiliations
- Medical Genetics (MEDGEN) (Research group)
Member
From1 Oct 2022 → Today - Medical Genetics (MEDGEN) (Research group)
Member
From1 Jan 2020 → 30 Sep 2022 - Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 16 Sep 2019 - Department of Pediatrics and medical genetics (Department)
Member
From1 Apr 2012 → 30 Sep 2018
Publications
21 - 30 of 31
- A novel Janus kinase 3 (JAK3) mutation in a patient with severe combined immunodeficiency(2015)
Authors: Delfien Bogaert, Kristof Van Schil, Tom Taghon, Victoria Bordon Maria, Melissa Dullaers, Filomeen Haerynck
Number of pages: 1 - Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion(2015)
Authors: Kristof Van Schil, Françoise Meire, Marcus Karlstetter, Miriam Bauwens, Hannah Verdin, Eva Scheiffert, Christian Van Nechel, Thomas Langmann, Nicolas Deconinck
Pages: 291 - 299 - Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene(2015)
Authors: Panagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, Hanno J Bolz, Philipp L Müller, Raoul Heller, Mohammed E El-Asrag, Kristof Van Schil, Vincent Plagnol, Carmel Toomes, et al.
Pages: 8083 - 8090 - Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement(2015)
Authors: Mohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil, James A Poulter, et al.
Pages: 948 - 954 - Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy(2015)
Authors: Kristof Van Schil, Marcus Karlstetter, Françoise Meire, Miriam Bauwens, Hannah Verdin, Eva Scheiffert, Nicolas Deconinck, Thomas Langmann
Number of pages: 1 - Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa(2014)
Authors: Kristof Van Schil
Pages: 181 - 181 - Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation(2014)Volume: 34
Authors: Filomeen Haerynck, Delfien Bogaert, Elfride De Baere, Bart Lambrecht, Karim Vermaelen, Veronique Debacker, Kristof Van Schil, Frans De Baets, Petra Schelstraete, Victoria Bordon Maria, et al.
Pages: S346 - S346 - Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy(2014)
Authors: Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Tom Sante, Nouha Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire
Pages: 671 - 680 - Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies(2013)
Authors: Kristof Van Schil, Thomy De Ravel, Hannah Verdin, Françoise Meire
Number of pages: 1 - Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions(2012)
Authors: Kristof Van Schil
Number of pages: 1