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Dive into the research topics where Marja Wessels is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, , 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling
Moronta Gines, M., Wessels, M. W., Casa, V., van Staveren, T., Hof, A., Chung, W. K., Willems, M., Sandestig, A., Huening, I., Turnpenny, P., Lefebvre, M., Parenti, I., Kaiser, F. J., Demmers, J., van Ijcken, W. F. J. & Wendt, K. S., 19 Dec 2025, In: iScience. 28, 12, 114195.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J. M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, , 17 Nov 2025, In: The Journal of clinical investigation. 136, 22, p. 1-18 18 p., e182100.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus) -
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
Smits, D. J., Debuy, C., Brooks, A. S., Schot, R., Ferraro, F., Rots, D., Bouman, A., Verhoeven, V. J. M., Kaat, L. D., Kant, S. G., van Bever, Y., Demirdas, S., Zeidler, S., van Dooren, M. F., Donze, S. H., Hoefsloot, L. H., van Slegtenhorst, M. A., Wilke, M., Sleutels, F. & Drost, M. & 14 others, , 29 Jul 2025, (E-pub ahead of print) In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Web of Science) -
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals
Richer, J., Velchev, J. D., Goobie, S., Boswell-Patterson, C. A., Van De Laar, I. M. B. H., Verhagen, J. M. A., Wessels, M. W., Roos-Hesselink, J. W., Luyckx, I., Al-Amodi, H., Chu, M. W. A., Laberge, A. M., Sadikovic, B., Balci, T., Verstraeten, A. & Loeys, B., 1 Mar 2025, In: Journal of medical genetics. 62, 3, p. 199-205 7 p., jmg-2024-110219.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure)