ing. L.G. Boven

Research

Publications
  1. 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 journalArticleAcademicpeer-review

  2. 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 journalArticleAcademicpeer-review

  3. 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 journalMeeting AbstractAcademic

  4. Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

    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. C. M., 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. H., Nov-2018, In : Genetics in Medicine. 20, 11, p. 1374-1386 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

    van der Linde, I. H. M., Hiemstra, Y. L., Bokenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck-Zwarts, K. Y., Deprez, R. H. L., Herkert, J. C., Boven, L., van der Zwaag, P. A., Jongbloed, J. D. H., Bootsma, M. & Barge-Schaapveld, D. Q. C. M., Dec-2017, In : Netherlands Heart Hournal. 25, 12, p. 675-681 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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