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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, p. E003672

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

Cardiac Repolarization in Health and Disease

Krijger Ju?rez, C., Amin, A. S., Offerhaus, J. A., Bezzina, C. R. & Boukens, B. J., 1 Jan 2023, In: JACC: Clinical Electrophysiology. 9, 1, p. 124-138 15 p.

Research output: Contribution to journal › Review article › Academic › peer-review

The Netherlands Heart Tissue Bank: Strengthening the cardiovascular research infrastructure with an open access Cardiac Tissue Repository

Henkens, M. T. H. M., van Ast, J. F., te Riele, A. S. J. M., Houweling, A. C., Amin, A. S., Nijveldt, R., Antoni, M. L., Li, X., Wehrens, S. M. T., von der Thüsen, J. H., Damman, K., ter Horst, E. N., Manintveld, O. C., Abma-Schouten, R. Y., Niessen, H. W. M., Silljé, H. H. W., Jukema, J. W. & Doevendans, P. A., 1 Jan 2023, In: Netherlands heart journal. 31, 1, p. 16-20 5 p.

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

Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study

Lim, J., Walter, H. A. W., de Bruin-Bon, R. A. C. M., Jarings, M. C., Planken, R. N., Kok, W. E. M., Raaphorst, J., Pinto, Y. M., Amin, A. S., Boekholdt, S. M. & van der Kooi, A. J., 2023, In: Journal of neuromuscular diseases. 10, 2, p. 185-197 13 p.

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

Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy

Lennermann, D. C., Pepin, M. E., Grosch, M., Konrad, L., Kemmling, E., Hartmann, J., Nolte, J. L., Clauder-Münster, S., Kayvanpour, E., Sedaghat-Hamedani, F., Haas, J., Meder, B., van den Boogaard, M., Amin, A. S., Dewenter, M., Krüger, M., Steinmetz, L. M., Backs, J. & van den Hoogenhof, M. M. G., 1 Dec 2022, In: American journal of physiology. Heart and circulatory physiology. 323, 6, p. H1296-H1310

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

KBTBD13 is a novel cardiomyopathy gene

de Winter, J. M., Bouman, K., Strom, J., Methawasin, M., Jongbloed, J. D. H., van der Roest, W., Wijngaarden, J. V., Timmermans, J., Nijveldt, R., van den Heuvel, F., Kamsteeg, E-J., van Engelen, B. G., Galli, R., Bogaards, S. J. P., Boon, R. A., van der Pijl, R. J., Granzier, H., Koeleman, B., Amin, A. S., van der Velden, J., & 5 othersvan Tintelen, J. P., van den Berg, M. P., van Spaendonck-Zwarts, K. Y., Voermans, N. C. & Ottenheijm, C. A. C., 1 Dec 2022, In: Human mutation. 43, 12, p. 1860-1865 6 p.

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

Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

van der Crabben, S. N., Mörner, S., Lundström, A. C., Jonasson, J., Bikker, H., Amin, A. S., Rydberg, A. & Wilde, A. A. M., Nov 2022, In: European journal of human genetics. 30, 11, p. 1208-1210 3 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

European Reference Network for rare, low prevalence, or complex diseases of the heart (ERN GUARD-Heart): 5 year anniversary

Amin, A. S., Biller, R., Charron, P. & Wilde, A. A. M., 14 Jun 2022, In: European heart journal. 43, 23, p. 2173-2176 4 p.

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

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

Walsh, R., Adler, A., Amin, A. S., Abiusi, E., Care, M., Bikker, H., Amenta, S., Feilotter, H., Nannenberg, E. A., Mazzarotto, F., Trevisan, V., Garcia, J., Hershberger, R. E., Perez, M. V., Sturm, A. C., Ware, J. S., Zareba, W., Novelli, V., Wilde, A. A. M. & Gollob, M. H., 14 Apr 2022, In: European heart journal. 43, 15, p. 1500-1510 11 p.

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

Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic