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Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
van der Laan, L., Kleinendorst, L., van Hagen, J. M., Waisfisz, Q. & van Haelst, M. M., 1 Oct 2024, In: European journal of medical genetics. 71, 104964.Research output: Contribution to journal › Article › Academic › peer-review
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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., Aug 2024, In: Clinical obesity. 14, 4, e12661.Research output: Contribution to journal › Article › Academic › peer-review
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L. A., Toutain, B. R., Poirier, L. A., Cuinat, S., Kritzer, A., Crunk, A., diMonda, J., Vengoechea, J., Mercier, S., Kleinendorst, L., van Haelst, M. M., & 27 others, 11 Jul 2024, In: American journal of human genetics. 111, 7, p. 1352-1369 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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