Research output per year
Research output per year
Personal profile
External positions
No external positions -
3 Nov 2025 → 31 Dec 3999
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
Demaegd, K. C., Kernan, A., Cooper-Knock, J., van Vugt, J. J. F. A., Harvey, C., Moll, T., O’Brien, D., Gornall, S., Drury, L., Farhan, S. M. K., Dion, P. A., Rouleau, G. A., Western, A., Parsons, P. J., Mclean, B., Benatar, M., van den Berg, L. H., Van Damme, P., Willem Dankbaar, J. & Hendrikse, J. & 10 others, , Sept 2025, In: European Journal of Human Genetics. 33, 9, p. 1106-1112 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Zwartkruis, M. M., Kortooms, J. V., Gommers, D., Elferink, M. G., Signoria, I., van der Sel, J., Hop, P. J., Zwamborn, R. A. J., Geene, R., Green, J. W., van Deutekom, H. W. M., van Rheenen, W., Veldink, J. H., Asselman, F. L., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 16 May 2025, In: iScience. 28, 5, 112461.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure) -
Dissecting epigenetic age acceleration in amyotrophic lateral sclerosis
Merbaum, P., Zwamborn, R., Hop, P., Sequencing Consortium, P. M. E. A., van Rheenen, W. & Veldink, J., 2025, In: Epigenomics. 17, 16, p. 1153-1161 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Record, C. J., O'Connor, A., Verbeek, N. E., van Rheenen, W., Zamba Papanicolaou, E., Peric, S., Ligthart, P. C., Skorupinska, M., van Binsbergen, E., Campeau, P. M., Ivanovic, V., Hennigan, B., McHugh, J. C., Blake, J. C., Murakami, Y., Laura, M., Murphy, S. M. & Reilly, M. M., Feb 2025, In: Annals of Neurology. 97, 2, p. 388-396 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
Reus, L. M., Willemse, S. W., de Boer, S. C. M., De Houwer, J., Hartog, W. L., Mol, M. O., van Rooij, J. G. J., Tesi, N., Donker Kaat, L., Hulsman, M., Vijverberg, E. G. B., Holstege, H., van Rheenen, W., Veldink, J. H., van den Berg, L. H., van Swieten, J. C., Seelaar, H., van der Lee, S. J., van Es, M. A. & Pijnenburg, Y. A. L., Jun 2025, In: Annals of Neurology. 97, 6, p. 1062-1066 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure)