Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
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Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients with Cerebellar Ataxia
Ghorbani, F., De Boer, E. N., Benjamins-Stok, M., Verschuuren-Bemelmans, C. C., Knapper, J., De Boer-Bergsma, J., De Vries, J. J., Sikkema-Raddatz, B., Verbeek, D. S., Westers, H. & Van Diemen, C. C., 2-feb.-2023, In: Neurology: Genetics. 9, 1, e200050.Onderzoeksoutput › Academic › peer review
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SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
Alimohamed, M. Z., Boven, L. G., van Dijk, K. K., Vos, Y. J., Hoedemaekers, Y. M., van der Zwaag, P. A., Sijmons, R. H., Jongbloed, J. D. H., Sikkema-Raddatz, B. & Westers, H., 30-jan.-2023, In: Gene. 851, 10 blz., 146984.Onderzoeksoutput › Academic › peer review
Open AccessBestand26 Downloads (Pure) -
Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma
van de Pol, J. A. A., Ferronika, P., Westers, H., van Engeland, M., Terpstra, M. M., Smits, K. M., de Lange, K., van den Brandt, P. A., Sijmons, R. H., Schouten, L. J. & Kok, K., 22-apr.-2022, In: Scientific Reports. 12, 1, 12 blz., 6478.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)6 Downloads (Pure) -
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
Ghorbani, F., Alimohamed, M. Z., Vilacha, J. F., Van Dijk, K. K., De Boer-Bergsma, J., Fokkens, M. R., Lemmink, H., Sijmons, R. H., Sikkema-Raddatz, B., Groves, M. R., Verschuuren-Bemelmans, C. C., Verbeek, D. S., Van Diemen, C. C. & Westers, H., 25-mrt.-2022, In: Frontiers in Genetics. 13, 13 blz., 782685.Onderzoeksoutput › Academic › peer review
Open AccessBestand2 Citaten (Scopus)26 Downloads (Pure) -
Functional investigation of two simultaneous or separately segregating DSP variants within a single family support the theory of a dose-dependent disease severity
Vermeer, M. C. S. C., Andrei, D., Kramer, D., Nijenhuis, A. M., Hoedemaekers, Y. M., Westers, H., Jongbloed, J. D. H., Pas, H. H., van den Berg, M. P., Silljé, H. H. W., van der Meer, P. & Bolling, M. C., 2022, In: Experimental dermatology. 31, 6, blz. 970-979 10 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)38 Downloads (Pure)
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What if we would use a diagnostic multi-cancer gene panel for opportunistic screening?
Helga Westers (Speaker)
20-sep.-2019Activiteit: Academic presentation › Academic
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7th International Cardiovascular Genomic Medicine Conference
Yvonne Vos (Speaker), Mohamed Alimohamed (Speaker), Lennart Johansson (Speaker), Helga Westers (Speaker), Richard Sinke (Speaker), Rolf Sijmons (Speaker), Birgit Sikkema-Raddatz (Speaker), Jan Jongbloed (Speaker) & Paul Zwaag, van der (Speaker)
4-dec.-2019 → 5-dec.-2019Activiteit: Professional or public presentation › Professional
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What if we would turn a diagnostic multi-cancer gene panel into a screening tool?
Helga Westers (Speaker)
17-jun.-2019Activiteit: Academic presentation › Academic