Research output per year
Research output per year
Personal profile
Education/Academic qualification
PhD, Functional assays to diagnose gene variants in Lynch syndrome
Award Date: 26 Mar 2014
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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 AccessFile3 Citations (Scopus)43 Downloads (Pure) -
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Smits, D. J., Ferraro, F., Drost, M., van der Linde, H. C., de Graaf, B. M., van Bever, Y., Brooks, A. S., Bardina, L., Brüggenwirth, H. T., Debuy, C., Donker Kaat, L., van Dijk, B. T., van Engelen, N., Geeven, G., van de Graaf, R., van Haaften-Visser, D. Y., van Hasselt, P. M., Heijsman, D., Hendriks, Y. M. C. & Hitti-Malin, R. J. & 25 others, , Jan 2026, In: European journal of human genetics : EJHG. 34, 1, p. 108-118 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)35 Downloads (Pure) -
A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
Drost, M., Tiersma, Y., Thompson, B. A., Frederiksen, J. H., Keijzers, G., Glubb, D., Kathe, S., Osinga, J., Westers, H., Pappas, L., Boucher, K. M., Molenkamp, S., Zonneveld, J. B., van Asperen, C. J., Goldgar, D. E., Wallace, S. S., Sijmons, R. H., Spurdle, A. B., Rasmussen, L. J. & Greenblatt, M. S. & 2 others, , Jul 2019, In: Genetics in Medicine. 21, 7, p. 1486-1496 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile49 Citations (Scopus) -
Adjuvant treatment for POLE proofreading domain–mutant cancers: Sensitivity to radiotherapy, chemotherapy, and nucleoside analogues
Van Gool, I. C., Rayner, E., Osse, E. M., Nout, R. A., Creutzberg, C. L., Tomlinson, I. P. M., Church, D. N., Smit, V. T. H. B. M., De Wind, N., Bosse, T. & Drost, M., 1 Jul 2018, In: Clinical Cancer Research. 24, 13, p. 3197-3203 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile83 Citations (Scopus) -
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome
Drost, M., Lützen, A., Van Hees, S., Ferreira, D., Calléja, F., Zonneveld, J. B. M., Nielsen, F. C., Rasmussen, L. J. & De Wind, N., 20 May 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 23, p. 9403-9408 6 p.Research output: Contribution to journal › Article › Academic › peer-review
21 Citations (Scopus)