Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Netwerk
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 AccessBestand14 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)18 Downloads (Pure) -
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
Veldman, A., Kiewiet, M. B. G., Heiner-Fokkema, M. R., Nelen, M. R., Sinke, R. J., Sikkema-Raddatz, B., Voorhoeve, E., Westra, D., Dolle, M. E. T., Schielen, P. C. J. & van Spronsen, F. J., mrt.-2022, In: International journal of neonatal screening. 8, 1, 11 blz., 17.Onderzoeksoutput › Academic › peer review
Open AccessBestand10 Citaten (Scopus)42 Downloads (Pure) -
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Alimohamed, M. Z., Westers, H., Vos, Y. J., Van der Velde, K. J., Sijmons, R. H., Van der Zwaag, P. A., Sikkema-Raddatz, B. & Jongbloed, J. D. H., 1-mrt.-2022, In: Frontiers in Genetics. 13, 7 blz., 824510.Onderzoeksoutput › Academic › peer review
Open AccessBestand6 Downloads (Pure)
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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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Variantanalyse: luctor et emergo Hoe bedwingen we de groeiende berg te interpreteren varianten? Hoe krijg je verbeteringen gerealiseerd?
Birgit Sikkema-Raddatz (Speaker)
20-dec.-2018Activiteit: Professional or public presentation › Professional
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Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
7-apr.-2016Activiteit: Academic presentation › Academic
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Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
24-mei-2016Activiteit: Academic presentation › Academic
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From whole genome to diagnosis for critically ill newborns in 5 days
Birgit Sikkema-Raddatz (Speaker)
16-apr.-2015Activiteit: Academic presentation › Academic
Datasets
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset
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Additional file 4: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd ,de, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-dec.-2018
DOI: 10.6084/m9.figshare.7479074.v1
Dataset
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Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van Diemen, C. (Contributor), Wijmenga, C. (Contributor), Franke, L. (Contributor), van der Velde, J. (Contributor), Sinke, R. (Contributor), Swertz, M. (Contributor), Raddatz, B. (Contributor), de Boer, E. (Contributor), Knopperts, A. (Contributor), de Koning, T. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
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Additional file 5: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-dec.-2018
DOI: 10.6084/m9.figshare.7479080.v1
Dataset