Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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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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Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
de Boer, E. N., Vroom, V., Scheper, A. J., Johansson, L. F., Bosscher, L., Rietema, N., Commandeur-Jan, S. Z., Knoers, N. V. A. M., Sikkema-Raddatz, B., van den Berg, E. & van Diemen, C. C., 12-Apr-2024, In: Scientific Reports. 14, 9 p., 8508.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile30 Downloads (Pure) -
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Kiewiet, G., Westra, D., de Boer, E. N., van Berkel, E., Hofste, T. G. J., van Zweeden, M., Derks, R. C., Leijsten, N. F. A., Ruiterkamp-Versteeg, M. H. A., Charbon, B., Johansson, L., Bos-Kruizinga, J., Veenstra, I. J., de Sain-van der Velden, M. G. M., Voorhoeve, E., Heiner-Fokkema, M. R., van Spronsen, F., Sikkema-Raddatz, B. & Nelen, M., 7-Mar-2024, In: International journal of neonatal screening. 10, 1Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)24 Downloads (Pure) -
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, 8 p., e200050.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)25 Downloads (Pure) -
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 AccessFile9 Citations (Scopus)76 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 AccessFile6 Citations (Scopus)155 Downloads (Pure)
Datasets
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. J. (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 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. J. (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 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. J. (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 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 3: 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.7479071.v1
Dataset
Press/Media
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The Sequencing Buyer’s Guide: 5th Edition
07/03/2023
1 Media contribution
Press/Media: Research › Popular