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Research Output

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

CiliaCarta: An integrated and validated compendium of ciliary genes

van Dam, T. J. P., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, K. A., Rix, S., Dougherty, G. W., Lambacher, N. J., Li, C., Jensen, V. L., Leroux, M. R., Hjeij, R., Horn, N., Texier, Y., Wissinger, Y., van Reeuwijk, J., Wheway, G., Knapp, B., Scheel, J. F., Franco, B. & 28 others, Mans, D. A., van Wijk, E., Kepes, F., Slaats, G. G., Toedt, G., Kremer, H., Omran, H., Szymanska, K., Koutroumpas, K., Ueffing, M., Nguyen, T-M. T., Letteboer, S. J. F., Oud, M. M., van Beersum, S. E. C., Schmidts, M., Beales, P. L., Lu, Q., Giles, R. H., Szklarczyk, R., Russell, R. B., Gibson, T. J., Johnson, C. A., Blacque, O. E., Wolfrum, U., Boldt, K., Roepman, R., Hernandez-Hernandez, V. & Huynen, M. A., 16 May 2019, In : PLOS ONE. 14, 5, 32 p., 0216705.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In : Frontiers in Genetics. 9, 17 p., 400.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
Open Access