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Dive into the research topics where Marinus Blok is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
Moghadasi, S., Zanti, M., Bleeker, F., Blok, M., Braspenning, M. E., Cerna, M., Collee, M. J., Engel, C., Hopman, S., Kleiblova, P., Koole, W., Mensenkamp, A., Overwater, E., Palmero, E. I., Snijders Blok, L., Storm, K., Stringa, N., Wevers, M. R., Vreeswijk, M. P. G. & Goldgar, D. & 2 others, , Mar 2026, In: Journal of Medical Genetics. 63, 3, p. 157-163 7 p.Research output: Contribution to journal › Article › Academic › peer-review
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Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling
Vernimmen, V., De Rycke, M., Moutou, C., Dreesen, J., Blok, M. J., Van Minkelen, R., Lauer-Zillhardt, J., Verdyck, P., Keymolen, K., Van Uum, C., Homminga, I., Brandts, L., Stumpel, C. T. R. M., Coonen, E., Heijligers, M., Van Zelst-Stams, W., Zamani Esteki, M., Van Den Wijngaard, A., De Die-Smulders, C. E. M. & Paulussen, A. D. C., 1 Feb 2026, In: Human Reproduction. 41, 2, p. 285-295 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
Barnes, D. R., Tyrer, J. P., Dennis, J., Leslie, G., Bolla, M. K., Lush, M., Aeilts, A. M., Aittomäki, K., Andrieu, N., Andrulis, I. L., Anton-Culver, H., Arason, A., Arun, B. K., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Berger, L. P. V., Berrington de Gonzalez, A., Berthet, P. & Bialkowska, K. & 31 others, , 1 Dec 2025, In: npj Genomic Medicine. 10, 1, 21 p., 73.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Pacot, L., Blok, M., Vidaud, D., Fertitta, L., Laurendeau, I., Coustier, A., Maillard, T., Barbance, C., Hadjadj, D., Ye, M., Lallemand, D., Ferkal, S., Funalot, B., Lunati-Rozie, A., Hebrard, B., Bhouri, R., Spruijt, L., Bessis, D., Geneviève, D. & Vernimmen, V. & 31 others, , 1 Dec 2025, In: Journal of Medical Genetics. 62, 12, p. 783-793 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
Schreurs, M. A. C., Schmidt, M. K., Hollestelle, A., Schaapveld, M., van Asperen, C. J., Ausems, M. G. E. M., van de Beek, I., Broekema, M. F., Collée, J. M., van der Hout, A. H., van Kaam, K. J. A. F., Komdeur, F. L., Mensenkamp, A. R., Adank, M. A., Hooning, M., Hereditary Breast and Ovarian Cancer Research Group Netherlands, Gomez Garcia, E. B. & Blok, M., Sept 2024, In: Genetics in Medicine. 26, 9, 101171.Research output: Contribution to journal › Article › Academic › peer-review
Open Access
Datasets
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QURNAS : Quantitative enrichment of aberrant splicing events in targeted RNA-seq data of pathogenic neurofibromatosis type 1 (NF1) RNA-splicing
Szklarczyk, R. (Contributor), Dias Brandão, R. (Contributor), Mensaert, K. (Contributor), Tserpelis, D. (Contributor), Derks, K. (Contributor), De Meyer, T. (Contributor), Smeets, B. (Contributor) & Blok, M. (Contributor), DataverseNL, 23 Oct 2018
DOI: 10.34894/biu9rk
Dataset/Software: Dataset