Researcher
Jonathan De Winter
- Keywords:Medicine
- Disciplines:Neurological and neuromuscular diseases, Genetics
Affiliations
- Translational Neurosciences (TNW) (Research group)
Member
From1 Oct 2021 → Today
Publications
1 - 10 of 11
- Hereditary motor neuropathy(2024)
Authors: Jonathan De Winter, Jonathan Baets
Pages: 1 - 15 - Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias(2024)
Authors: Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
Pages: 227 - 238 - A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(2023)
Authors: Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.
Pages: 1 - 15 - Distinct features in adult polyglucosan body disease(2023)
Authors: Jonathan De Winter, Gert Cypers, Edwin Jacobs, Tine Deconinck, Willem De Ridder, Sven Dekeyzer, Jonathan Baets
Pages: 148 - 152 - Twist exome capture allows for lower average sequence coverage in clinical exome sequencing(2023)
Authors: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.
Pages: 1 - 9 - Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies(2023)
Authors: Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, et al.
Pages: 4880 - 4890 - Commentary(2022)
Authors: Liedewei Van de Vondel, Jonathan De Winter
Pages: 1 - 3 - De novo and dominantly inherited SPTAN1 mutations cause spastic paraplegia and cerebellar ataxia(2022)
Authors: Liedewei Van de Vondel, Jonathan De Winter, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot‐Noël, Tine Deconinck, et al.
Pages: 1175 - 1186 - A recurrent KPNA3 missense variant causing infantile pure spastic paraplegia(2022)
Authors: Jonathan De Winter, Liedewei Van de Vondel, Stephan Zuchner, Els Ortibus
Pages: 298 - 299 - RFC1 repeat expansions(2022)
Authors: Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, et al.
Pages: 2156 - 2161