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 others, Robinson, 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-Mar-2021, In: CLIN Journal. 131, 5, 13 p., 142148.

Research output: Contribution to journal › Article › 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, p. 654-663 10 p.

Research output: Contribution to journal › Article › 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., 22-Oct-2021, (E-pub ahead of print) In: Prenatal Diagnosis. p. 1-13 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Corsten-Janssen, N., Bouman, K., Diphoorn, J. C. D., Scheper, A. J., Kinds, R., El Mecky, J., Breet, H., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., Sep-2020, In: Prenatal Diagnosis. 40, 10, p. 1300-1309 24 p.

Research output: Contribution to journal › Article › Academic › peer-review

Lessons learned from rapid Exome Sequencing(rES)as a standard diagnostic test in a prenatal setting for fetuses with ultrasound abnormalities.

Corsten-Janssen, N., Bouman, K., Scheper, A. J., Meems-Veldhuis, M. T., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 169-170 2 p.

Research output: Contribution to journal › Meeting Abstract › Academic