The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Genomics England Research Consortium, Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B., Kibæk, M., & 33 anderenPrijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, B., Deb, W., Schmanski, A. A., Abdul-Rahman, O., Philippe, C., Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Leeuwen, L., Kramer, J. M. & Kleefstra, T., 1-jun.-2023, In: American Journal of Human Genetics. 110, 6, blz. 963-978 16 blz.

Onderzoeksoutput › Academic › peer review

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Leeuwen, L., Lubout, C. M. A., Nijenhuis, H. P., Meiners, L. C., Vos, Y. J. & Herkert, J. C., 2022, In: Clinical Genetics. 102, 4, blz. 350-351 2 blz.

Onderzoeksoutput › Academic › peer review

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies

Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., Williams, M., Henderson, L. B., Wentzensen, I. M., McLaughlin, H., Leeuwen, L., Simon, M. E. H., van Binsbergen, E., Dinulos, M. B. P., Kaplan, J. D., McRae, A., Superti-Furga, A., Good, J-M. & Kutsche, K., sep.-2021, In: European Journal of Human Genetics. 29, blz. 1384-1395 12 blz.

Onderzoeksoutput › Academic › peer review