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Dive into the research topics where Esther Korpershoek is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
Damen, L., Broekema, M. F., Vogel, M. J., Korpershoek, E., Koudijs, M. J., Boersma, B. R., Dreijerink, K. M., Zondervan, P. J., Dubbink, H. J. & van Hest, L. P., 17 Feb 2026, (E-pub ahead of print) In: Journal of medical genetics. 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Downloads (Pure) -
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 AccessFile21 Downloads (Pure) -
Familial Mahvash disease with metastatic pancreatic NET and MEN1 mutations
Kuiper, J., De Herder, W. W., Brahim, Y. B., Van Velthuysen, M. L. F., Brosens, L. A. A., Feelders, R. A., Langendonk, J. G., Van Marion, R., Korpershoek, E., Klöppel, G., Wagner, A. & Hofland, J., Jun 2025, In: Endocrine-Related Cancer. 32, 6, e250087.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)8 Downloads (Pure) -
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma
Mellid, S., Gil, E., Letón, R., Caleiras, E., Honrado, E., Richter, S., Palacios, N., Lahera, M., Galofré, J. C., López-Fernández, A., Calatayud, M., Herrera-Martínez, A. D., Galvez, M. A., Matias-Guiu, X., Balbín, M., Korpershoek, E., Lim, E. S., Maletta, F., Lider, S. & Fliedner, S. M. J. & 7 others, , 25 Jan 2023, In: Frontiers in Endocrinology. 13, 1070074.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile10 Citations (Scopus)82 Downloads (Pure) -
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Douben, H. C. W., Nellist, M., van Unen, L., Elfferich, P., Kasteleijn, E., Hoogeveen-Westerveld, M., Louwen, J., van Veghel-Plandsoen, M., de Valk, W., Saris, J. J., Hendriks, F., Korpershoek, E., Hoefsloot, L. H., van Vliet, M., van Bever, Y., van de Laar, I., Aten, E., Lachmeijer, A. M. A., Taal, W. & van den Bersselaar, L. & 5 others, , Dec 2022, In: Human Mutation. 43, 12, p. 2130-2140 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Citations (Scopus)185 Downloads (Pure)