Fenne Komdeur

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Schreurs, M. A. C., Hollestelle, A., Schaapveld, M., van de Beek, I., Broekema, M. F., van Kaam, K. J. A. F., Komdeur, F. L. & The Hereditary Breast and Ovarian Cancer Research Group Netherlands, 1 Sept 2024, In: Genetics in medicine. 26, 9, 101171.

Research output: Contribution to journal › Article › Academic › peer-review

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Demirdas, S., van den Bersselaar, L. M., Lechner, R., Bos, J., Alsters, S. I. M., Baars, M. J. H., Baas, A. F., Baysal, Ö., van der Crabben, S. N., Dulfer, E., Giesbertz, N. A. A., Helderman-van den Enden, A. T. J. M., Hilhorst-Hofstee, Y., Kempers, M. J. E., Komdeur, F. L., Loeys, B., Majoor-Krakauer, D., Ockeloen, C. W., Overwater, E., van Tintelen, P. J., & 6 othersVoorendt, M., de Waard, V., Maugeri, A., Brüggenwirth, H. T., van de Laar, I. M. B. H. & Houweling, A. C., 1 Jun 2024, In: Circulation. Genomic and precision medicine. 17, 3, p. e003978

Research output: Contribution to journal › Article › Academic › peer-review

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F. L., Liang, R. A., Abdel-Hamid, M. S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F. S., Zaki, M. S., Severino, M., Duru, K. C., Tryon, R. C., Brauteset, L. V., Ansari, M., & 9 othersHamilton, M., van Haelst, M. M., van Haaften, G., Zara, F., Houlden, H., Samarut, É., Nichols, C. G., Smeland, M. F. & McClenaghan, C., 1 May 2024, In: Brain. 147, 5, p. 1822-1836 15 p.

Research output: Contribution to journal › Article › Academic › peer-review