Researcher
Liedewei Van de Vondel
- Keywords:Medicine
- Disciplines:Bio-informatics, Analysis of next-generation sequence data, Bioinformatics of disease, Genetics not elsewhere classified, Cytoskeleton, Molecular and cell biology not elsewhere classified, Neurological and neuromuscular diseases
Affiliations
- Peripheral Neuropathies Group (Research group)
Member
From1 Oct 2019 → Today
Projects
1 - 1 of 1
- Neuro-spectrinopathies: approaching the phenotypical heterogeneity issueFrom1 Nov 2020 → TodayFunding: FWO fellowships
Publications
1 - 10 of 12
- 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 - 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 - Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14(2023)
Authors: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, et al.
Pages: 1 - 19 - 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 - BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease(2022)
Authors: Adriana P. Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, et al.
Pages: 2487 - 2500 - Solve-RD(2021)
Authors: Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schuele, Matthis Synofzik, Ana Topf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, et al.
Pages: 1325 - 1331 - Solving unsolved rare neurological diseases(2021)
Authors: Rebecca Schuele, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand, Bart van de Warrenburg, Ludger Schoels, Carlo Wilke, Andrea Bevot, Stephan Zuchner, et al.
Pages: 1332 - 1336