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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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)27 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, blz. 6086–6093 8 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)38 Downloads (Pure) -
Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis
Haisma, S-M., Weersma, R. K., Joosse, M. E., de Koning, B. A., de Meij, T., Koot, B. G., Wolters, V., Norbruis, O., Daly, M. J., Stevens, C., Xavier, R. J., Koskela, J., Rivas, M. A., Visschedijk, M. C., Verkade, H. J., Barbieri, R., Jansen, D. B., Festen, E. A., van Rheenen, P. F. & van Diemen, C. C., 11-mrt.-2021, In: Liver International. 14 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand4 Citaten (Scopus)40 Downloads (Pure) -
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital
Imafidon, M. E., Sikkema-Raddatz, B., Abbott, K. M., Meems-Veldhuis, M. T., Swertz, M. A., van der Velde, K. J., Beunders, G., Bos, D. K., Knoers, N. V. A. M., Kerstjens-Frederikse, W. S. & van Diemen, C. C., 31-mei-2021, In: Frontiers in Pediatrics. 9, 15 blz., 600556.Onderzoeksoutput › Academic › peer review
Open AccessBestand3 Citaten (Scopus)45 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. (Contributor), van der Vlies, P. (Contributor), Bonder, M. J. (Contributor), Koppelman, G. (Contributor), Bustamante, M. (Contributor), Antó, J. M. (Contributor), Wijmenga, C. (Contributor), Xu, C. (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 of A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease
Ghanbari, M. (Contributor), Salomaa, V. (Contributor), Havulinna, A. S. (Contributor), van Diemen, C. (Contributor), Stricker, B. H. C. (Contributor), Lind, L. (Contributor), Liu, J. (Contributor), Lahousse, L. (Contributor), Perola, M. (Contributor), Van Der Spek, A. (Contributor), Vonk, J. (Contributor), Äarnlöv, J. (Contributor), Kalaoja, M. (Contributor), Kettunen, J. (Contributor), Boezen, H. (Contributor), Yang-Fu, J. (Contributor), de Vries, M. (Contributor), Zhernakova, S. (Contributor), Amin, N. (Contributor), Plaat ,van der, D. (Contributor), Ala-Korpela, M. (Contributor), Prokić, I. (Contributor), Brusselle, G. G. (Contributor) & Van Duijn, C. M. (Contributor), University of Groningen, 1-jan.-2020
DOI: 10.6084/m9.figshare.12667566.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 The emerging landscape of dynamic DNA methylation in early childhood
Xu, C. (Contributor), Bonder, M. J. (Contributor), Söderhäll, C. (Contributor), Annesi-Maesano, I. (Contributor), Rijkom, B. (Contributor), Kere, J. (Contributor), Postma, D. (Contributor), Koppelman, G. (Contributor), Gehring, U. (Contributor), van der Vlies, P. (Contributor), van Diemen, C. (Contributor), Bousquet, J. (Contributor), Zhernakova, S. (Contributor), Just, J. (Contributor), Sunyer, J. (Contributor), Kull, I. (Contributor), Melén, E. (Contributor), Jankipersadsing, S. (Contributor), Antó, J. M. (Contributor), Li, Y. (Contributor), Bustamante, M. (Contributor), Wijmenga, C. (Contributor) & Baïz, N. (Contributor), University of Groningen, 5-jan.-2017
DOI: 10.6084/m9.figshare.c.3659303_d3.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