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Dive into the research topics where Jordy Dekker 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 AccessFile16 Downloads (Pure) -
Small colony variant E. faecalis as cause for bioprosthetic heart valve endocarditis
Dekker, J. & Dix, L. M. L., Dec 2025, In: Microbe (Netherlands). 9, 100566.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Downloads (Pure) -
A clinical and genotype-phenotype analysis of MACF1 variants
Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, , 2 Oct 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure) -
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development
Dekker, J., Lam, W., van der Linde, H. C., Ophorst, F., de Konink, C., Schot, R., Kremers, G. J., Sanderson, L. E., Berdowski, W. M., van Woerden, G. M., Mancini, G. M. S. & van Ham, T. J., Sept 2025, In: Development (Cambridge, England). 152, 18, dev204348.Research output: Contribution to journal › Article › Academic
Open AccessFile28 Downloads (Pure) -
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
Smits, D. J., Dekker, J., Douben, H., Schot, R., Magee, H., Bakhtiari, S., Koehler, K., Huebner, A., Schuelke, M., Darvish, H., Vosoogh, S., Tafakhori, A., Jameie, M., Taghiabadi, E., Wilson, Y., Shah, M., van Slegtenhorst, M. A., Medici-van den Herik, E. G., van Ham, T. J. & Kruer, M. C. & 1 others, , 10 Oct 2024, In: Human Genetics and Genomics Advances. 5, 4, 100327.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)87 Downloads (Pure)