M. Vreeburg

van Gisbergen, M. W., Rossel, S. V. J., Theunissen, T. E. J., Janssen, R., Kaseke, T., van der Smagt, J. J., Steijlen, P. M., Vreeburg, M., Gostynski, A. H., & van Geel, M. (2025). Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants. British Journal of Dermatology, 192(3), 544-546. https://doi.org/10.1093/bjd/ljae419

Rossel, S. V. J., Reich, A., Baniel, A., Wertheim-Tysarowska, K., Frommherz, L. H., Nolberczak, D., Lesiak, A., Kwiek, B., Osipowicz, K., Bekkenk, M. W., Spruijt, L., Seyger, M. M. B., Kolt-Kaminska, M., Giehl, K., Nartbutt, J., Vreeburg, M., Steijlen, P. M., Sprecher, E., van Geel, M., & Gostynski, A. H. (2024). Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption. Journal of the European Academy of Dermatology and Venereology. Advance online publication. https://doi.org/10.1111/jdv.20420

Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H., ... Kleefstra, T. (2024). Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. American Journal of Human Genetics, 111(8), 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008

Clabbers, J. M. K., Roemen, G. M. J. M., Rajan, N., Shah, A., Woo, P., Arefi, M., Vreeburg, M., Steijlen, P. M., Gostynski, A., & van Geel, M. (2024). HRAS mosaicism in linear palmoplantar keratoderma. Journal of the European Academy of Dermatology and Venereology, 38(5), e382-e384. https://doi.org/10.1111/jdv.19613

Clabbers, J., van Oosten, N., Bolling, M., Vreeburg, M., van Geel, M., Steijlen, P., & Gostynski, A. (2024). Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature. Dermatology, 240(1), 170-177. Article 000533934. https://doi.org/10.1159/000533934

Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., van den Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., van Maarle, M. C., Vreeburg, M., Bolling, M. C., van Geel, M., & Gostynski, A. (2023). Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. Journal of the European Academy of Dermatology and Venereology, 37(12), e1405-e1409. https://doi.org/10.1111/jdv.19340

Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., ... Brunner La Rocca, H.-P. (2023). Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands. European Journal of Pediatrics, 182(6), 2683-2692. https://doi.org/10.1007/s00431-023-04909-1

Clabbers, J. M. K., Bolling, M. C., Burms, C., Vreeburg, M., Lemmink, H. H., van den Akker, P. C., Steijlen, P. M., van Geel, M., & Gostynski, A. H. (2023). Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene. Journal of the European Academy of Dermatology and Venereology, 37(4), E486-E490. https://doi.org/10.1111/jdv.18699

Ravindran, E., Arashiki, N., Becker, L.-L., Takizawa, K., Lévy, J., Rambaud, T., Makridis, K. L., Goshima, Y., Li, N., Vreeburg, M., Demeer, B., Dickmanns, A., Stegmann, A. P. A., Hu, H., Nakamura, F., & Kaindl, A. M. (2022). Monoallelic CRMP1 gene variants cause neurodevelopmental disorder. Elife, 11, Article e80793. https://doi.org/10.7554/eLife.80793

Nagtzaam, I. F., van Leersum, F. S., Kouwenberg, L. C. M., Blok, M. J., Vreeburg, M., Steijlen, P. M., Gostyński, A., & van Geel, M. (2022). STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity. British Journal of Dermatology, 187(5), 820-822. https://doi.org/10.1111/bjd.21775