20112020

Research output per year

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Research Output

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G. & Szklarczyk, R., 8 Feb 2020, In : Molecular genetics & genomic medicine. 8, 2, 14 p., e1049.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

van Tienen, F., Lindsey, P., Kamps, M., Krapels, I., Ramaekers, F., Brunner, H., van den Wijngaard, A. & Broers, J., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 389–399 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Westra, D., Schouten, M. I., Stunnenberg, B. C., Kusters, B., Saris, C. G. J., Erasmus, C. E., van Engelen, B. G., Bulk, S., Verschuuren-Bemelmans, C. C., Gerkes, E. H., de Geus, C., van der Zwaag, P. A., Chan, S., Chung, B., Barge-Schaapveld, D. Q. C. M., Kriek, M., Sznajer, Y., van Spaendonck-Zwarts, K., van der Kooi, A. J., Krause, A. & 13 others, Schönewolf-Greulich, B., de Die-Smulders, C., Sallevelt, S. C. E. H., Krapels, I. P. C., Rasmussen, M., Maystadt, I., Kievit, A. J. A., Witting, N., Pennings, M., Meijer, R., Gillissen, C., Kamsteeg, E-J. & Voermans, N. C., 2019, In : Journal of neuromuscular diseases. 6, 2, p. 241-258 18 p.

Research output: Contribution to journalArticleAcademicpeer-review