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 -
P-493 Navigating the landscape of reproductive genetic literacy: insights from healthcare professionals
Naghdi, M., Heijlligers, M., Van Golde, R., Destouni, A., Janssen, A., Reyneke, M., Essers, R., Paulussen, A., Van der Lugt, A., Ruiter, R., Salumets, A. & Esteki, M. Z., 1 Jul 2024, In: Human Reproduction. 39, p. I424-I424 1 p.Research output: Contribution to journal › Conference Abstract/Poster in journal › Academic
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2023
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., van Dijk, W., Drusedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., Cao, P., 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, , 8 Dec 2023, 32 p.Research output: Working paper / Preprint › Preprint
Open Access -
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