| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 94 | 2023 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease E Prokhorova, T Agnew, AR Wondisford, M Tellier, N Kaminski, D Beijer, ... Molecular Cell 81 (12), 2640-2655. e8, 2021 | 59 | 2021 |
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 42 | 2021 |
| Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation D Beijer, HJ Kim, L Guo, K O’Donovan, I Mademan, T Deconinck, ... JCI insight 6 (14), 2021 | 39 | 2021 |
| Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy D Beijer, T Deconinck, JL De Bleecker, MT Dotti, A Malandrini, ... Brain 142 (9), 2605-2616, 2019 | 31 | 2019 |
| Defects in axonal transport in inherited neuropathies D Beijer, A Sisto, J Van Lent, J Baets, V Timmerman Journal of neuromuscular diseases 6 (4), 401-419, 2019 | 27 | 2019 |
| Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies CG Salter, D Beijer, H Hardy, KES Barwick, M Bower, I Mademan, ... Neurology: Genetics 4 (2), e222, 2018 | 24 | 2018 |
| The expanding genetic landscape of hereditary motor neuropathies D Beijer, J Baets Brain 143 (12), 3540-3563, 2020 | 18 | 2020 |
| RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia D Beijer, MF Dohrn, J De Winter, S Fazal, A Cortese, T Stojkovic, ... European journal of neurology 29 (7), 2156-2161, 2022 | 17 | 2022 |
| Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response D Beijer, T Agnew, JGM Rack, E Prokhorova, T Deconinck, B Ceulemans, ... Life Science Alliance 4 (11), 2021 | 12 | 2021 |
| De novo and inherited variants in GBF1 are associated with axonal neuropathy caused by Golgi fragmentation N Mendoza-Ferreira, M Karakaya, N Cengiz, D Beijer, KW Brigatti, ... The American Journal of Human Genetics 107 (4), 763-777, 2020 | 12 | 2020 |
| De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia L Van de Vondel, J De Winter, D Beijer, G Coarelli, M Wayand, ... Movement disorders 37 (6), 1175-1186, 2022 | 11 | 2022 |
| Deep structured learning for variant prioritization in Mendelian diseases MC Danzi, MF Dohrn, S Fazal, D Beijer, AP Rebelo, V Cintra, S Züchner Nature Communications 14 (1), 4167, 2023 | 8 | 2023 |
| PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway J De Winter, D Beijer, W De Ridder, M Synofzik, SL Zuchner, ... Brain 144 (2), e17-e17, 2021 | 8 | 2021 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 7 | 2023 |
| Solving unsolved rare neurological diseases—a Solve-RD viewpoint R Schüle, D Timmann, CE Erasmus, J Reichbauer, M Wayand, ... European Journal of Human Genetics 29 (9), 1332-1336, 2021 | 7 | 2021 |
| Standards of NGS data sharing and analysis in ataxias: recommendations by the NGS working group of the ataxia global initiative D Beijer, BL Fogel, S Beltran, MC Danzi, AH Németh, S Züchner, ... The Cerebellum 23 (2), 391-400, 2024 | 5 | 2024 |
| BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease AP Rebelo, A Ruiz, MF Dohrn, M Wayand, A Farooq, MC Danzi, D Beijer, ... Genetics in Medicine 24 (12), 2487-2500, 2022 | 5 | 2022 |
| Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures D Beijer, SL Züchner Frontiers in Molecular Neuroscience 15, 1011856, 2022 | 4 | 2022 |
Jonathan BaetsNeurogenetics group, University of AntwerpVerified email at uantwerpen.be
