Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

Alimohamed, M. Z., Johansson, L., Posafalvi, A., Boven, L. G., van Dijk, K. K., Walters, L., Vos, Y. J., Westers, H., Hoedemaekers, Y. M., Sinke, R. J., Sijmons, R. H., Sikkema-Raddatz, B., Jongbloed, J. D. H. & van der Zwaag, P. A., 2021, (E-pub ahead of print) In: International Journal of Cardiology. 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes

Dorsch, L. M., Kuster, D. W. D., Jongbloed, J. D. H., Boven, L. G., van Spaendonck-Zwarts, K. Y., Suurmeijer, A. J. H., Vink, A., Sarvaas, G. J. D. M., van den Berg, M. P., van der Velden, J., Brundel, B. J. J. M. & Van der Zwaag, P. A., 15-Jan-2021, In: International Journal of Cardiology. 323, p. 251-258 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

An international evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) using the ClinGen framework.

Jongbloed, J., 2020, (Accepted/In press) In: Circulation. Genomic and precision medicine.

Research output: Contribution to journal › Article › Academic › peer-review

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert, J. C., Verhagen, J. M. A., Yotti, R., Haghighi, A., Phelan, D. G., James, P. A., Brown, N. J., Stutterd, C., Macciocca, I., Leong, KE., Bulthuis, M. L. C., van Bever, Y., van Slegtenhorst, M. A., Boven, L. G., Roberts, A. E., Agarwal, R., Seidman, J., Lakdawala, N. K., Fernández-Avilés, F., Burke, M. A. & 12 others, Pierpont, M. E., Braunlin, E., Ḉağlayan, A. O., Barge-Schaapveld, D. Q. C. M., Birnie, E., van Osch-Gevers, L., van Langen, I. M., Jongbloed, J. D. H., Lockhart, P. J., Amor, D. J., Seidman, C. E. & van de Laar, I. M. B. H., Jul-2020, In: American Heart Journal. 225, p. 108-119 12 p.

Research output: Contribution to journal › Article › Academic › peer-review