Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Persoonlijk profiel
Expertise gerelateerd aan duurzame ontwikkelingsdoelstellingen van de VN
In 2015 stemden de VN-lidstaten in met 17 wereldwijde duurzame ontwikkelingsdoelstellingen (Sustainable Development Goals, SDG's) om armoede te beëindigen, de planeet te beschermen en voor iedereen welvaart te garanderen. Het werk van deze persoon draagt bij aan de volgende duurzame ontwikkelingsdoelstelling(en):
Vingerafdruk
Verdiep u in de onderzoeksgebieden waarop Cleo van Diemen actief is. Deze onderwerplabels komen uit het werk van deze persoon. Samen vormen ze een unieke vingerafdruk.
- 1 Soortgelijke profielen
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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High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia
Ignjatijevic, A., Boorsma, F., Wierenga, E., Vansenne, F., Verschuuren-Bemelmans, C. C., de Vries, J., Verbeek, D. S., Westers, H. & van Diemen, C. C., apr.-2025, In: Neurology. Genetics. 11, 2, 6 blz., e200244.Onderzoeksoutput › Academic › peer review
Open AccessBestand2 Downloads (Pure) -
Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics
de Boer, E. N., Corsten-Janssen, N., Wierenga, E., Bijma, T., Knapper, J. T., Meerman, G. J. T., Manten, G. T. R., Knoers, N. V. A. M., Bouman, K., Duin, L. K. & Diemen, C. C. V., 6-feb.-2025, In: Diagnostics. 15, 3, 12 blz., 386.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Downloads (Pure) -
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders
de Boer, E. N., Scheper, A. J., Hendriksen, D., Charbon, B., van der Vries, G., ten Berge, A. M., Grootscholten, P. M., Lemmink, H. H., Jongbloed, J. D. H., Bosscher, L., Knoers, N. V. A. M., Swertz, M. A., Sikkema-Raddatz, B., Dijkstra, D. J., Johansson, L. F. & van Diemen, C. C., 21-mrt.-2025, In: International Journal of Molecular Sciences. 26, 7, 15 blz., 2850.Onderzoeksoutput › Academic › peer review
Open AccessBestand2 Downloads (Pure) -
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 blz., 8508.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)72 Downloads (Pure) -
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia
Ghorbani, F., de Boer, E. N., Fokkens, M. R., de Boer-Bergsma, J., Verschuuren-Bemelmans, C. C., Wierenga, E., Kasaei, H., Noordermeer, D., Verbeek, D. S., Westers, H. & van Diemen, C. C., 18-okt.-2024, In: International Journal of Molecular Sciences. 25, 20, 18 blz., 11205.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)74 Downloads (Pure)
Datasets
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Additional file 5: of The emerging landscape of dynamic DNA methylation in early childhood
Annesi-Maesano, I. (Contributor), Kull, I. (Contributor), Just, J. (Contributor), Baïz, N. (Contributor), Sunyer, J. (Contributor), Jankipersadsing, S. A. (Contributor), van der Vlies, P. (Contributor), Bonder, M. J. (Contributor), Koppelman, G. H. (Contributor), Bustamante, M. (Contributor), Antó, J. M. (Contributor), Wijmenga, C. (Contributor), Xu, C.-J. (Contributor), Bousquet, J. (Contributor), van Diemen, C. (Contributor), Zhernakova, S. (Contributor), Gehring, U. (Contributor), Li, Y. (Contributor), Rijkom, B. (Contributor), Postma, D. (Contributor), Melén, E. (Contributor), Kere, J. (Contributor) & Söderhäll, C. (Contributor), University of Groningen, 6-jan.-2017
DOI: 10.6084/m9.figshare.c.3659303_d5.v1, https://doi.org/10.6084%2Fm9.figshare.c.3659303_d5.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. J. (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 2: of Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population
Plaat ,van der, D. (Contributor), Vonk, J. M. (Contributor), Lahousse, L. (Contributor), De Jong, K. (Contributor), Faiz, A. (Contributor), Nedeljkovic, I. (Contributor), Amin, N. (Contributor), van Diemen, C. (Contributor), Brusselle, G. G. (Contributor), Bossé, Y. (Contributor), Brandsma, C.-A. (Contributor), Hao, K. (Contributor), Paré, P. D. (Contributor), Van Duijn, C. M. (Contributor), Postma, D. (Contributor) & Boezen, H. M. (Contributor), University of Groningen, 7-mrt.-2019
DOI: 10.6084/m9.figshare.7818791.v1
Dataset
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Additional file 3: of The emerging landscape of dynamic DNA methylation in early childhood
Xu, C.-J. (Creator), Bonder, M. J. (Creator), Söderhäll, C. (Creator), Bustamante, M. (Contributor), Baïz, N. (Creator), Gehring, U. (Creator), Jankipersadsing, S. A. (Contributor), van der Vlies, P. (Contributor), van Diemen, C. (Contributor), Rijkom, B. (Contributor), Just, J. (Creator), Kull, I. (Creator), Kere, J. (Creator), Antó, J. M. (Creator), Bousquet, J. (Creator), Zhernakova, S. (Creator), Wijmenga, C. (Creator), Annesi-Maesano, I. (Creator), Sunyer, J. (Creator), Melén, E. (Creator), Li, Y. (Creator), Postma, D. (Creator) & Koppelman, G. H. (Creator), figshare, 5-jan.-2017
DOI: 10.6084/m9.figshare.c.3659303_d2
Dataset
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Additional file 5: of The emerging landscape of dynamic DNA methylation in early childhood
Xu, C.-J. (Creator), Bonder, M. J. (Creator), Söderhäll, C. (Creator), Bustamante, M. (Contributor), Baïz, N. (Creator), Gehring, U. (Creator), Jankipersadsing, S. A. (Contributor), van der Vlies, P. (Contributor), van Diemen, C. (Contributor), Rijkom, B. (Contributor), Just, J. (Creator), Kull, I. (Creator), Kere, J. (Creator), Antó, J. M. (Creator), Bousquet, J. (Creator), Zhernakova, S. (Creator), Wijmenga, C. (Creator), Annesi-Maesano, I. (Creator), Sunyer, J. (Creator), Melén, E. (Creator), Li, Y. (Creator), Postma, D. (Creator) & Koppelman, G. H. (Creator), figshare, 5-jan.-2017
DOI: 10.6084/m9.figshare.c.3659303_d5
Dataset