dr. J.D.H. Jongbloed

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E-mail:
j.d.h.jongbloed umcg.nl

Research

Publications
  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 journalArticleAcademicpeer-review

  2. Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series

    Mulder, B. A., Hoedemaekers, Y. M., van den Berg, M. P., van Loon, R. L. E., Wind, A. M., Jongbloed, J. D. H. & Wiesfeld, A. C. P., Sep-2019, In : European heart journal. Case reports. 3, 3, 7 p., ytz132.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Mortality Risk associated with Truncating Founder Mutations in Titin

    Jansen, M., Baas, A. F., van Spaendonck-Zwarts, K. Y., Ummels, A. S., van den Wijngaard, A., Jongbloed, J. D. H., van Slegtenhorst, M. A., Deprez, R. H. L., Wessels, M. W., Michels, M., Houweling, A. C., Hoorntje, E. T., Helderman-van den Enden, P. J. T. M., Barge-Schaapveld, D. Q. M. C., van Tintelen, J., van den Berg, M. P., Wilde, A. A. M., van Amstel, H. P., Hennekam, E. A. M., Asselbergs, F. W., Sijbrands, E. J. G. & Dooijes, D., Jul-2019, In : European Journal of Human Genetics. 27, p. 145-146 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort

    van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Deprez, R. H. L., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P. & James, C. A., Aug-2019, In : Circulation-Genomic and precision medicine. 12, 8, 8 p., 002467.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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 journalArticleAcademicpeer-review

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Activities
  1. 7th International Cardiovascular Genomic Medicine Conference

    Yvonne Vos (Speaker), Mohamed Alimohamed (Speaker), Lennart Johansson (Speaker), Helga Westers (Speaker), Richard Sinke (Speaker), Rolf Sijmons (Speaker), Birgit Sikkema-Raddatz (Speaker), Jan Jongbloed (Speaker), Paul Zwaag, van der (Speaker)
    4-Dec-20195-Dec-2019

    Activity: Participating in or organising an eventParticipation in conferenceProfessional

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