Research output per year
Research output per year
Search results
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2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., Cao, P., van Dijk, W., Drüsedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, , 1 Dec 2024, In: Nature Communications. 15, 1, 15 p., 7164.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome
van der Made, C. I., Kersten, S., Chorin, O., Engelhardt, K. R., Ramakrishnan, G., Griffin, H., Schim van der Loeff, I., Venselaar, H., Rothschild, A. R., Segev, M., Schuurs-Hoeijmakers, J. H. M., Mantere, T., Essers, R., Esteki, M. Z., Avital, A. L., Loo, P. S., Simons, A., Pfundt, R., Warris, A. & Seyger, M. M. & 14 others, , 12 Mar 2024, In: American Journal of Human Genetics. 111, 4, p. 791-804 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Essers, R., Lebedev, I. N., Kurg, A., Fonova, E. A., Stevens, S. J. C., Koeck, R. M., von Rango, U., Brandts, L., Deligiannis, S. P., Nikitina, T. V., Sazhenova, E. A., Tolmacheva, E. N., Kashevarova, A. A., Fedotov, D. A., Demeneva, V. V., Zhigalina, D. I., Drozdov, G. V., Al-Nasiry, S., Macville, M. V. E. & van den Wijngaard, A. & 6 others, , Dec 2023, In: Nature Medicine. 29, 12, p. 3233-3242 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2022
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