1. 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., 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

2. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

   Almomani, R., Herkert, J. C., Posafalvi, A., Post, J. G., Boven, L. G., van der Zwaag, P. A., Willems, P. H. G. M., Van Veen-Hof, I. H., Verhagen, J. M. A., Wessels, M. W., Nikkels, P. G. J., Wintjes, L. T., van den Berg, M. P., Sinke, R. J., Rodenburg, R. J., Niezen-Koning, K. E., van Tintelen, J. P. & Jongbloed, J. D. H., Jan-2020, In : JOURNAL OF MEDICAL GENETICS. 57, 1, p. 23-30 8 p.

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

3. Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

   Akinrinade, O., Helio, T., Deprez, R. H. L., Jongbloed, J. D. H., Bovens, L. G., van den Berg, M. P., Pinto, Y. M., Alastalo, T-P., Myllykangas, S., van Spaendonck-Zwarts, K., van Tintelen, J. P., van der Zwaag, P. A. & Koskenvuo, J., 11-Mar-2019, In : Scientific Reports. 9, 1, 9 p., 4093.

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

4. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

   Hoorntje, E. T., Posafalvi, A., Syrris, P., van der Velde, K. J., Bolling, M. C., Protonotarios, A., Boven, L. G., Amat-Codina, N., Groeneweg, J. A., Wilde, A. A., Sobreira, N., Calkins, H., Hauer, R. N. W., Jonkman, M. F., McKenna, W. J., Elliott, P. M., Sinke, R. J., van den Berg, M. P., Chelko, S. P., James, C. A., van Tintelen, J. P., Judge, D. P. & Jongbloed, J. D. H., 30-Aug-2018, In : PLoS ONE. 13, 8, 14 p., e0203078.

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

5. A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients

   Herkert, J. C., Abbott, K. M., Birnie, E., Meems-Veldhuis, M. T., Boven, L. G., Benjamins, M., Sarvaas, G. J. D. M., Barge-Schaapveld, D. Q., van Tintelen, J. P., van der Zwaag, P. A., Vos, Y. J., Sinke, R. J., van den Berg, M. P., van Langen, I. M. & Jongbloed, J. D., 14-Nov-2017, In : Circulation. 136, 2 p., A18198.

   Research output: Contribution to journal › Meeting Abstract › Academic

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