Research output per year
Research output per year
Network
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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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-Mar-2022, In: Frontiers in Genetics. 13, 13 p., 782685.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)18 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 AccessFile29 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-Mar-2021, In: Liver International. 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)36 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-May-2021, In: Frontiers in Pediatrics. 9, 15 p., 600556.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)34 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 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 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 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 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