A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Nagyova, E., Hoorntje, E. T., Rijdt, W. P. T., Bosman, L. P., Syrris, P., Protonotarios, A., Elliott, P. M., Tsatsopoulou, A., Mestroni, L., Taylor, M. R. G., Sinagra, G., Merlo, M., Wada, Y., Horie, M., Mogensen, J., Christensen, A. H., Gerull, B., Song, L., Yao, Y., Fan, S., & 21 othersSaguner, A. M., Duru, F., Koskenvuo, J. W., Cruz Marino, T., Tichnell, C., Judge, D. P., Dooijes, D., Lekanne Deprez, R. H., Basso, C., Pilichou, K., Bauce, B., Wilde, A. A. M., Charron, P., Fressart, V. R., van der Heijden, J. F., van den Berg, M. P., Asselbergs, F. W., James, C. A., Jongbloed, J. D. H., Harakalova, M. & van Tintelen, J. P., 2023, (E-pub ahead of print) In: Journal of cardiovascular translational research.

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

Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Jansen, M., Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., 2023, (E-pub ahead of print) In: Journal of cardiovascular translational research.

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

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias

Pham, C., Andrzejczyk, K., Jurgens, S. J., Lekanne Deprez, R., Palm, K. C. A., Vermeer, A. M. C., Nijman, J., Christiaans, I., Barge-Schaapveld, D. Q. C. M., van Dessel, P. F. H. M., Beekman, L., Choi, S. H., Lubitz, S. A., Skoric-Milosavljevic, D., van den Bersselaar, L., Jansen, P. R., Copier, J. S., Ellinor, P. T., Wilde, A. A. M., Bezzina, C. R., & 1 othersLodder, E. M., 1 Aug 2023, In: Circulation. Genomic and precision medicine. 16, 4, p. 328-336 9 p.

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

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

O'Neill, M. J., Chen, S. N., Rumping, L., Johnson, R., van Slegtenhorst, M., Glazer, A. M., Yang, T., Solus, J. F., Laudeman, J., Mitchell, D. W., Vanags, L. R., Kroncke, B. M., Anderson, K., Gao, S., Verdonschot, J. A. J., Brunner, H., Hellebrekers, D., Taylor, M. R. G., Roden, D. M., Wessels, M. W., & 4 othersLekanne Dit Deprez, R. H., Fatkin, D., Mestroni, L. & Shoemaker, M. B., Aug 2023, In: Heart Rhythm. 20, 8, p. 1158-1166 9 p.

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

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

The European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, 1 Aug 2023, In: Netherlands heart journal. 31, 7-8, p. 300-307 8 p.

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