Researcher
Kristof Van Schil
- Keywords (University of Antwerp):Medicine
- Disciplines (University of Antwerp):Clinical genetics and molecular diagnostics, Genetics
- Disciplines (Ghent University):Genetics, Ophthalmology
- See also: Kristof Van Schil (Ghent University)
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
1 - 9 of 9
- Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis(2024)
Authors: Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Helen Lord, Christopher Mark Watson, David T. Bonthron, Lut Van Laer, Andrew O.M. Wilkie, et al.
Pages: 363 - 368 - From diagnosis to treatment in genetic epilepsies(2024)
Authors: Matthias De Wachter, An-Sofie Schoonjans, Sarah Weckhuysen, Kristof Van Schil, Ann Löfgren, Marije Meuwissen, Anna Jansen, Berten Ceulemans
Pages: 46 - 60 - Negative molecular diagnostics in non-syndromic hearing loss(2023)
Authors: Thomas Clabout, Laurence Maes, Frederic Acke, Wim Wuyts, Kristof Van Schil, Paul Coucke, Sandra Janssens, Els De Leenheer
Pages: 1 - 15 - A homozygous loss of function variant in POPDC3(2023)
Authors: Willem De Ridder, Geert de Vries, Kristof Van Schil, Tine Deconinck, Vincent Mouly, Volker Straub, Jonathan Baets
Pages: 432 - 439 - Targeted next-generation sequencing in children with bilateral sensorineural hearing loss(2023)
Authors: An Boudewyns, Jenneke van den Ende, Nils Peeters, Guy Van Camp, Anouk Hofkens-Van den Brandt, Kristof Van Schil, Wim Wuyts
Pages: 360 - 366 - A severe form of familial desminopathy due to a homozygous nonsense DES variant in two siblings(2023)
Authors: Laura Claes, Kristof Van Schil, Wendy Dewals
Pages: 279 - 286 - Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder(2022)
Authors: Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valerie Benoit, Kailash P. Bhatia, et al.
Pages: 98 - 109 - Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation(2021)
Authors: Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, et al.
- Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Authors: Stijn Sompele,Van de, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Pages: 1319 - 1329