Eline Overwater


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Research Output 2014 2018

  • 9 Article
  • 1 Comment/Letter to the editor

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Overwater, E., Efrat, R., Barge-Schaapveld, D. Q. C. M., Lakeman, P., Weiss, M. M., Maugeri, A., van Tintelen, J. P. & Houweling, A. C., 28 Nov 2018, In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & 1 othersMaugeri, A., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1173-1192 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Iris Flocculi and Type B Aortic Dissection

Overwater, E. & Houweling, A. C., 1 Nov 2017, In : Ophthalmology. 124, 11, p. 1711 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., Weiss, M. M. & 2 othersHouweling, A. C. & Maugeri, A., 1 Sep 2017, In : European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms

Yeung, K. K., Bogunovic, N., Keekstra, N., Beunders, A. A. M., Pals, J., van der Kuij, K., Overwater, E., Wisselink, W., Blankensteijn, J. D., van Hinsbergh, V. W. M., Musters, R. J. P., Pals, G., Micha, D. & Zandieh-Doulabi, B., Apr 2017, In : Human Mutation. 38, 4, p. 439-450 12 p.

Research output: Contribution to journalArticleAcademicpeer-review