Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin
de Haan, A., Eijgelsheim, M., Vogt, L., Hoorn, E. J., Rotmans, J. I., Fortrie, G., Marsman, R. F. J., Rothuizen, T. C., Spijker, H. S., Claus, L. R., Konings, C. J. A. M., Waanders, F., Doornebal, J., Kramer, A. B., Adema, A. Y., van der Zwaag, B., van Eerde, A. M., Knoers, N. V. A. M. & de Borst, M. H., 1 Jun 2025, In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 40, 6, p. 1225-1233 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics
Muffels, I. J. J., Carter, T., Rehmann, H., Vastert, S. J., Verrijn Stuart, A. A., Blank, A. C., Garde, A., van der Zwaag, B., De Lange, I. M., Giltay, J. C., van Gassen, K. L. I., Koop, K., Asensio, C. S. & van Hasselt, P. M., 20 Jun 2025, In: iScience. 28, 6, 18 p., 112585.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure) -
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia
Taudien, J. E., Bracht, D., Olbrich, H., Swirski, S., D'Abrusco, F., Van der Zwaag, B., Möller, M., Lücke, T., Teig, N., Lindberg, U., Wohlgemuth, K., Wallmeier, J., Blanque, A., Gatsogiannis, C., George, S., Jüschke, C., Owczarek-Lipska, M., Veer, D., Kroes, H. Y. & Valente, E. M. & 3 others, , 21 Feb 2025, In: iScience. 28, 2, 111670.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure) -
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
van Oirsouw, A. S. E., Nedbalova, P., Hancarova, M., Prchal, J., Prchalova, D., Vlckova, M., Bendova, S., Monaghan, K. G., Dyer, L. M., Chen, Y., Carere, D. A., Te Bogt, E. A. M., Fisher, H., Scheuerle, A. E., Riley, S., Jain, M., Mu, W., Bodurtha, J. N., van Eerde, A. M. & Stokman, M. F. & 59 others, , Nov 2025, In: Genetics in medicine : official journal of the American College of Medical Genetics. 27, 11, 101555.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure) -
Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes
van Peer, S. E., Kuiper, R. P., Hol, J. A., Egging, S., van der Zwaag, B., Lilien, M. R., Lombardi, M. P., van den Heuvel-Eibrink, M. M. & Jongmans, M. C. J., Dec 2024, In: Kidney International Reports. 9, 12, p. 3570-3579 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure)