Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

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. & Gostyński, A. H., apr.-2023, In: Journal of the European Academy of Dermatology and Venereology. 37, 4, blz. e486-e490 5 blz.

Onderzoeksoutput › Academic › peer review

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Ghorbani, F., Alimohamed, M. Z., Vilacha, J. F., Van Dijk, K. K., De Boer-Bergsma, J., Fokkens, M. R., Lemmink, H., Sijmons, R. H., Sikkema-Raddatz, B., Groves, M. R., Verschuuren-Bemelmans, C. C., Verbeek, D. S., Van Diemen, C. C. & Westers, H., 25-mrt.-2022, In: Frontiers in Genetics. 13, 13 blz., 782685.

Onderzoeksoutput › Academic › peer review

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: Analysis of clinical outcome and tumour characteristics in the Dutch EB Registry

Harrs, C., van den Akker, P. C., Baardman, R., Duipmans, J. C., Horváth, B., van Kester, M. S., Lemmink, H. H., Rácz, E., Bolling, M. C. & Diercks, G. F. H., nov.-2022, In: The British journal of dermatology. 187, 5, blz. 824-826 3 blz.

Onderzoeksoutput › Academic › peer review

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants

Milligan, J. N., Larson, J. L., Filipovic-Sadic, S., Laosinchai-Wolf, W., Huang, Y-W., Ko, T-M., Abbott, K. M., Lemmink, H. H., Toivonen, M., Schleutker, J., Gentile, C., Van Deerlin, V. M., Zhu, H. & Latham, G. J., jun.-2021, In: Journal of Molecular Diagnostics. 23, 6, blz. 753-764 12 blz.

Onderzoeksoutput › Academic › peer review

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

van der Welle, R. E. N., Jobling, R., Burns, C., Sanza, P., van der Beek, J. A., Fasano, A., Chen, L., Zwartkruis, F. J., Zwakenberg, S., Griffin, E. F., ten Brink, C., Veenendaal, T., Liv, N., van Ravenswaaij-Arts, C. M. A., Lemmink, H. H., Pfundt, R., Blaser, S., Sepulveda, C., Lozano, A. M., Yoon, G., & 6 anderenSantiago-Sim, T., Asensio, C. S., Caldwell, G. A., Caldwell, K. A., Chitayat, D. & Klumperman, J., 2021, In: EMBO Molecular Medicine. 13, 5, blz. 1-24 24 blz., 13243.

Onderzoeksoutput › Academic › peer review