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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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 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 AccessFile17 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 AccessFile13 Downloads (Pure) -
A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease
Prokić, I., Lahousse, L., de Vries, M., Liu, J., Kalaoja, M., Vonk, J. M., van der Plaat, D. A., van Diemen, C. C., van der Spek, A., Zhernakova, A., Fu, J., Ghanbari, M., Ala-Korpela, M., Kettunen, J., Havulinna, A. S., Perola, M., Salomaa, V., Lind, L., Ärnlöv, J., Stricker, B. H. C. & 4 others, , 16-Jul-2020, In: BMC Pulmonary Medicine. 20, 1, 10 p., 193.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)46 Downloads (Pure) -
A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis
Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., Santing, M. J., Morssink, L. P., Streefland, E., van Diemen, C. C., Vrijlandt, E. J. L. E., Hulzebos, C. & Kerstjens-Frederikse, W. S., 2-Jul-2020, In: American Journal of Medical Genetics. Part A. 182, 9, p. 2152-2160 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)29 Downloads (Pure)
Datasets
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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. (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. (Contributor), Hao, K. (Contributor), Paré, P. D. (Contributor), Van Duijn, C. M. (Contributor), Postma, D. (Contributor) & Boezen, H. (Contributor), University of Groningen, 7-Mar-2019
DOI: 10.6084/m9.figshare.7818791.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. N. (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 3: of The emerging landscape of dynamic DNA methylation in early childhood
Xu, C. (Contributor), Bonder, M. J. (Contributor), Söderhäll, C. (Contributor), Just, J. (Contributor), Postma, D. (Contributor), Koppelman, G. (Contributor), Bustamante, M. (Contributor), Gehring, U. (Contributor), van Diemen, C. (Contributor), Baïz, N. (Contributor), Melén, E. (Contributor), Zhernakova, S. (Contributor), Bousquet, J. (Contributor), Rijkom, B. (Contributor), Annesi-Maesano, I. (Contributor), Antó, J. M. (Contributor), Li, Y. (Contributor), Kull, I. (Contributor), Wijmenga, C. (Contributor), Kere, J. (Contributor), Jankipersadsing, S. (Contributor), van der Vlies, P. (Contributor) & Sunyer, J. (Contributor), University of Groningen, 5-Jan-2017
DOI: 10.6084/m9.figshare.c.3659303_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: 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