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

Patients' and physicians' interpretation of chemotherapy-induced peripheral neurotoxicity

Cavaletti, G., Cornblath, D. R., Merkies, I. S. J., Postma, T. J., Rossi, E., Alberti, P., Bruna, J., Argyriou, A. A., Briani, C., Velasco, R., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Faber, C. G., Lalisang, R. I., Brandsma, D., Koeppen, S., Kerrigan, S., Schenone, A. & 31 others, Grisold, W., Mazzeo, A., Padua, L., Dorsey, S. G., Penas-Prado, M., Valsecchi, M. G., Frigeni, B., Lanzani, F., Mattavelli, L., Piatti, M. L., Binda, D., Bidoli, P., Cazzaniga, M., Cortinovis, D., Galie, E., Campagnolo, M., Salvalaggio, A., Ruiz, M., Vanhoutte, E. K., Boogerd, W., Hense, J., Grant, R., Storey, D., Reni, L., Demichelis, C., Pessino, A., Granata, G., Leandri, M., Ghigliotti, I., Plasmati, R. & CI-PeriNomS Grp, Mar 2019, In : Journal of the Peripheral Nervous System. 24, 1, p. 111-119 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Seco, C. Z., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J. Y., Lelieveld, S. H., Castelein, S., Gilissen, C., de Wijs, I. J., Admiraal, R. J. C., Pennings, R. J. E., Kunst, H. P. M., van de Kamp, J. M., Tamminga, S., Houweling, A. C., Plomp, A. S., Maas, S. M., Gans, P. A. M. D. K., Kant, S. G., de Geus, C. M. & 10 others, Frints, S. G. M., Vanhoutte, E. K., van Dooren, M. F., van den Boogaard, M-J. H., Scheffer, H., Nelen, M., Kremer, H., Hoefsloot, L., Schraders, M. & Yntema, H. G., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 308-314 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access