Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Dutch NIPT Consortium, Schuurman, L. V. P., Sistermans, E. A., Van Opstal, D., Henneman, L., Bekker, M. N., Bax, C. J., Pieters, M. J., Bouman, K., de Munnik, S., den Hollander, N. S., Diderich, K. E. M., Faas, B. H. W., Feenstra, I., Go, A. T. J., Hoffer, M. J., Joosten, M., Komdeur, F. L., Lichtenbelt, K. D., Lombardi, M. P., & 15 anderenPolak, M. G., Jehee, F. S., Schuring-Blom, H., Stevens, S. J. C., Srebniak, M., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Meij, K. R. M., van Maarle, M. C., Vernimmen, V., Van Zelderen-Bhola, S. L., van Ravesteyn, N. T., Knapen, M. F. C. M., Macville, M. V. E. & Galjaard, R-J. H., 2-jun.-2022, In: American Journal of Human Genetics. 109, 6, blz. 1140-1152 14 blz.

Onderzoeksoutput › Academic › peer review

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

Dutch NIPT Consortium, Heesterbeek, C. J., Aukema, S. M., Galjaard, R-J. H., Boon, E. M. J., Srebniak, M. I., Bouman, K., Faas, B. H. W., Govaerts, L. C. P., Hoffer, M. J. V., den Hollander, N. S., Lichtenbelt, K. D., van Maarle, M. C., van Prooyen Schuurman, L., van Rij, M. C., Schuring-Blom, G. H., Stevens, S. J. C., Tan-Sindhunata, G., Zamani Esteki, M., de Die-Smulders, C. E. M., & 4 anderenTjan-Heijnen, V. C. G., Henneman, L., Sistermans, E. A. & Macville, M. V. E., 8-apr.-2022, In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 40, 22, blz. 2426-2435 12 blz.

Onderzoeksoutput › Academic › peer review

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Plantinga, M., Zwienenberg, L., van Dijk, E., Breet, H., Diphoorn, J., El Mecky, J., Bouman, K., Verheij, J., Birnie, E., Ranchor, A. V., Corsten-Janssen, N. & van Langen, I. M., mei-2022, In: Prenatal Diagnosis. 42, 6, blz. 762-774 13 blz.

Onderzoeksoutput › Academic › peer review

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Lahrouchi, N., Postma, A. V., Salazar, C. M., Laughter, D. M. D., Tjong, F., Piherova, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Skoric-Milosavljevic, D., Stranecky, V., Tomek, V., Knijff, P. D., Leeuw, R. D., & 30 anderenRobinson, J. Y., Burn, S. C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D. M., Wolf, B., Kim, K. H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denomme-Pichon, A-S., Francannet, C., Ortiz, D., Haak, M. C., Harkel, A. D. J. T., Manten, G. T. R., Dutman, A. C., Bouman, K., Magliozzi, M., Radio, F. C., Santen, G. W. E., Herkert, J. C., Brown, H. A., Elpeleg, O., Hoff, M. J. B. V. D. & Mulder, B., 1-mrt.-2021, In: CLIN Journal. 131, 5, 13 blz., 142148.

Onderzoeksoutput › Academic › peer review

Effect of prenatal screening on trends in perinatal mortality associated with congenital anomalies before and after the introduction of prenatal screening: A population-based study in the Northern Netherlands

Bardi, F., Bergman, J. E. H., Bouman, K., Erwich, J. J., Duin, L. K., Walle, H. E. K. & Bakker, M. K., nov.-2021, In: Paediatric and Perinatal Epidemiology. 35, 6, blz. 654-663 10 blz.

Onderzoeksoutput › Academic › peer review