Section Clinical Genetics

Collaborations and top research areas from the last five years

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  • 10 tips on how to take a proper family history in CKD patient care

    Genes & Kidney Working Group, 1 Sept 2025, In: Clinical Kidney Journal. 18, 9, sfaf253.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
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  • Accelerating nephrogenetics: from gene discovery to clinical application

    Claus, L., 3 Mar 2025, Utrecht University. 302 p.

    Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

  • A clinical and genotype-phenotype analysis of MACF1 variants

    Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A.-S., Mosca-Boidron, A.-L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., 2 Oct 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

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

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