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., 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., 7-Jul-2023, (E-pub ahead of print) In: Journal of cardiovascular translational research. 11 p.

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

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report

Remmelzwaal, P. C., Verhagen, M. V., Jongbloed, J. D. H., van den Akker, P. C., Veenstra-Knol, H. E. & Hitzert, M. M., Sept-2023, In: American Journal of Medical Genetics. Part A. 191, 9, p. 2440-2445 6 p.

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

SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics

Alimohamed, M. Z., Boven, L. G., van Dijk, K. K., Vos, Y. J., Hoedemaekers, Y. M., van der Zwaag, P. A., Sijmons, R. H., Jongbloed, J. D. H., Sikkema-Raddatz, B. & Westers, H., 30-Jan-2023, In: Gene. 851, 10 p., 146984.

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

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Jansen, M., Schuldt, M., van Driel, B. O., Schmidt, A. F., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Deprez, R. H. L., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., 17-Feb-2023, In: International Journal of Molecular Sciences. 24, 4, 12 p., 4031.

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

Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Hoorntje, E. T., Burns, C., Marsili, L., Corden, B., Parikh, V. N., Te Meerman, G. J., Gray, B., Adiyaman, A., Bagnall, R. D., Barge-Schaapveld, D. Q. C. M., Van Den Berg, M. P., Bootsma, M., Bosman, L. P., Correnti, G., Duflou, J., Eppinga, R. N., Fatkin, D., Fietz, M., Haan, E., Jongbloed, J. D. H., & 29 othersHauer, A. D., Lam, L., Van Lint, F. H. M., Lota, A., Marcelis, C., McCarthy, H. J., Van Mil, A. M., Oldenburg, R. A., Pachter, N., Planken, R. N., Reuter, C., Semsarian, C., Van Der Smagt, J. J., Thompson, T., Vohra, J., Volders, P. G. A., Van Waning, J. I., Whiffin, N., Van Den Wijngaard, A., Amin, A. S., Wilde, A. A. M., Van Woerden, G., Yeates, L., Zentner, D., Ashley, E. A., Wheeler, M. T., Ware, J. S., Van Tintelen, J. P. & Ingles, J., 1-Feb-2023, In: Circulation: Genomic and Precision Medicine. 16, 1, 11 p., E003672.

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