20122020

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

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

van de Putte, R., Van Rooij, I. A. L. M., Haanappel, C. P., Marcelis, C. L. M., Brunner, H. G., Addor, M-C., Cavero-Carbonell, C., Dias, C. M., Draper, E. S., Etxebarriarteun, L., Gatt, M., Khoshnood, B., Kinsner-Ovaskainen, A., Klungsoyr, K., Kurinczuk, J. J., Latos-Bielenska, A., Luyt, K., O'Mahony, M. T., Miller, N., Mullaney, C. & 18 others, Nelen, V., Neville, A. J., Perthus, I., Pierini, A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wiesel, A., Zymak-Zakutnia, N., Loane, M., Barisic, I., De Walle, H. E. K., Bergman, J. E. H. & Roeleveld, N., 15 May 2020, In : Birth Defects Research. 112, 9, p. 688-698 11 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

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A. & Brunner, H. G., Jan 2020, In : Human Mutation. 41, 1, p. 196-202 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access