Research output per year
Research output per year
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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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.Research output: Contribution to journal › Article › Academic › peer-review
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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
Ghorbani, F., de Boer-Bergsma, J., Verschuuren-Bemelmans, C. C., Pennings, M., de Boer, E. N., Kremer, B., Vanhoutte, E. K., de Vries, J. J., van de Berg, R., Kamsteeg, E-J., van Diemen, C. C., Westers, H., van de Warrenburg, B. P. & Verbeek, D. S., Nov-2022, In: Journal of Neurology. 269, p. 6086–6093 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)41 Downloads (Pure) -
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing
de Boer, E. N., Johansson, L. F., de Lange, K., Bosga-Brouwer, A. G., van den Berg, E., Sikkema-Raddatz, B. & van Diemen, C. C., Aug-2020, In: Clinical Chemistry. 66, 8, p. 1084-1092 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)116 Downloads (Pure) -
Targeted RNA sequencing enables detection of relevant translocations, single nucleotide variants and automatic leukemia classification
Sikkema-Raddatz, B., de Lange, K., de Boer, E. N., Bosga, A., Alimohamed, M. Z., Johansson, L. F., Mulder, A. B., Vellenga, E., van Diemen, C. C., Deelen, P. & van den Berg, E., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 555-556 2 p.Research output: Contribution to journal › Meeting Abstract › Academic
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Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING
de Lange, K., de Boer, E. N., Bosga, A., Alimohamed, M. Z., Johansson, L. F., Mulder, A. B., Vellenga, E., van Diemen, C. C., Deelen, P., van den Berg, E. & Sikkema-Raddatz, B., Dec-2020, In: Clinical Chemistry. 66, 12, p. 1521-1530 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)91 Downloads (Pure)
Datasets
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.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. (Creator), Abbott, K. (Creator), Knopperts, A. (Creator), Franke, L. (Creator), Sijmons, R. (Creator), de Koning, T. (Contributor), Wijmenga, C. (Creator), Sinke, R. (Creator) & Swertz, M. (Creator), figshare, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d4
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
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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 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