Research output per year
Research output per year
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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing
van Dijk, W., Derks, K., Drüsedau, M., Meekels, J., Koeck, R., Essers, R., Dreesen, J., Coonen, E., de Die-Smulders, C., Stevens, S. J. C., Brunner, H. G., van den Wijngaard, A., Paulussen, A. D. C. & Zamani Esteki, M., 31 Oct 2022, In: Human Reproduction. 37, 11, p. 2700-2708 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
Vincenten, S. C. C., Van der Stoep, N., Paulussen, A. D. C., Mul, K., Badrising, U. A., Kriek, M., Van der Heijden, O. W. H., Van Engelen, B. G. M., Voermans, N. C., De Die-Smulders, C. E. M. & Lassche, S., Feb 2022, In: Clinical Genetics. 101, 2, p. 149-160 12 p.Research output: Contribution to journal › (Systematic) Review article › peer-review
Open Access1 Citation (Web of Science) -
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
Sallevelt, S. C. E. H., Stegmann, A. P. A., de Koning, B., Velter, C., Steyls, A., van Esch, M., Lakeman, P., Yntema, H., Esteki, M. Z., de Die-Smulders, C. E. M., Gilissen, C., van den Wijngaard, A., Brunner, H. G. & Paulussen, A. D. C., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1125-1136 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access13 Citations (Web of Science) -
Liquid biopsy: state of reproductive medicine and beyond
Schobers, G., Koeck, R., Pellaers, D., Stevens, S. J. C., Macville, M. V. E., Paulussen, A. D. C., Coonen, E., van den Wijngaard, A., de Die-Smulders, C., de Wert, G., Brunner, H. G. & Zamani Esteki, M., 18 Oct 2021, In: Human Reproduction. 36, 11, p. 2824-2839 16 p.Research output: Contribution to journal › (Systematic) Review article › peer-review
Open Access4 Citations (Web of Science) -
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
Koster, R., Brandao, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Oberstein, S. A. J. L., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., & 5 others, 15 Nov 2021, In: npj Genomic Medicine. 6, 1, 10 p., 95.Research output: Contribution to journal › Article › Academic › peer-review
Open Access7 Citations (Web of Science)