Research output per year
Research output per year
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
Stroeks, S. L. V. M., Hellebrekers, D., Claes, G. R. F., Krapels, I. P. C., Henkens, M. H. T. M., Sikking, M., Vanhoutte, E. K., van den Enden, A., Brunner, H. G., van den Wijngaard, A. & Verdonschot, J. A. J., Jul 2023, In: European Journal of Human Genetics. 31, 7, p. 776-783 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy
Stroeks, S. L. V. M., Lunde, I. G. G., Hellebrekers, D. M. E. I., Claes, G. R. F., Wakimoto, H., Gorham, J., Krapels, I. P. C., Vanhoutte, E. K. K., van den Wijngaard, A., Henkens, M. T. H. M., Raafs, A. G. G., Sikking, M. A. A., Broers, J. L. V., Nabben, M., Jones, E. A. V., Heymans, S. R. B., Brunner, H. G. G. & Verdonschot, J. A. J., 1 Apr 2023, In: Circulation: Genomic and Precision Medicine. 16, 2, 12 p., e003788.Research output: Contribution to journal › Article › Academic › peer-review
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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, 11, p. 6086-6093 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Leitao, E., Schroder, C., Parenti, I., Dalle, C., Rastetter, A., Kuhnel, T., Kuechler, A., Kaya, S., Gerard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., & 17 others, 2 Nov 2022, In: Nature Communications. 13, 1, 17 p., 6570.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy
Stroeks, S. L. V. M., Hellebrekers, D. M. E. I., Claes, G. R. F., Tayal, U., Krapels, I. P. C., Vanhoutte, E. K., van den Wijngaard, A., Henkens, M. T. H. M., Ware, J. S., Heymans, S. R. B., Brunner, H. G. & Verdonschot, J. A. J., Nov 2021, In: Genetics in Medicine. 23, 11, p. 2186-2193 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access