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
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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 AccessFile64 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-Oct-2024, In: International Journal of Molecular Sciences. 25, 20, 18 p., 11205.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)16 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 AccessFile4 Citations (Scopus)38 Downloads (Pure) -
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 AccessFile4 Citations (Scopus)125 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 AccessFile12 Citations (Scopus)99 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 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 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 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-Mar-2019
DOI: 10.6084/m9.figshare.7818791.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. M. (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