Sonja de Munnik – Publications — Maastricht University

Research activity per year

2 Article
1 Comment/Letter to the editor
1 Preprint

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2023

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience
Faas, B. H. W., Westra, D., de Munnik, S. A., van Rij, M., Marcelis, C., Joosten, S., Krapels, I., Vernimmen, V., Heijligers, M., Willemsen, M. H., de Leeuw, N., Rinne, T., Pfundt, R., Smeekens, S. P., Stegmann, S. P. A., Macville, M., Sikkel, E., Coumans, A., Wijnberger, L., Derks, I., & 6 othersvan Lent-Albrechts, J., Hofste, T., Timmermans, R., van den End, J., Stevens, S. J. C. & Feenstra, I., Apr 2023, In: Prenatal Diagnosis. 43, 4, p. 527-543 17 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
Hebert, A., Simons, A., Schuurs-Hoeijmakers, J. H. M., Koenen, H. J. P. M., Zonneveld-Huijssoon, E., Henriet, S. S. V., Schatorjé, E. J. H., Hoppenreijs, E. P. A. H., Leenders, E. K. S. M., Janssen, E. J. M., Santen, G. W. E., de Munnik, S. A., van Reijmersdal, S. V., van Rijssen, E., Kersten, S., Netea, M. G., Smeets, R. L., van de Veerdonk, F. L., Hoischen, A. & van der Made, C. I., 2022, In: Elife. 11, 24 p., e78469.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access