Eline Overwater

DRS.

20142020

Research output per year

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Research Output

  • 10 Article
  • 2 Comment/Letter to the editor

Expanding the spectrum of CEP55-associated disease to viable phenotypes

Barrie, E. S., Overwater, E., van Haelst, M. M., Motazacker, M. M., Truxal, K. V., Crist, E., Mostafavi, R., Pivnick, E. K., Choudhri, A. F., Narumanchi, T. C., Castelluccio, V., Walsh, L. E., Garganta, C. & Gastier-Foster, J. M., 1 May 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1201-1208 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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., Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, e00518.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

Overwater, E., Van Rossum, K., Baars, M. J. H., Maugeri, A. & Houweling, A. C., 1 Dec 2019, In : Netherlands Heart Journal. 27, 12, p. 637-638 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

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 others, Maugeri, 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