20122020

Research output per year

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Research Output

  • 18 Article
  • 2 Comment/Letter to the editor
  • 1 Meeting Abstract

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

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E. & 6 others, Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G. & Micha, D., Oct 2019, In : European Journal of Human Genetics. 27, p. 1293-1293

Research output: Contribution to journalMeeting AbstractAcademic

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

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: Further delineation of the phenotype

Cannaerts, E., Kempers, M., Maugeri, A., Marcelis, C., Gardeitchik, T., Richer, J., Micha, D., Beauchesne, L., Timmermans, J., Vermeersch, P., Meyten, N., Chénier, S. B., van de Beek, G., Peeters, N., Alaerts, M., Schepers, D., van Laer, L., Verstraeten, A. & Loeys, B., 1 Apr 2019, In : Journal of Medical Genetics. 56, 4, p. 220-227 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access