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

Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

Voorwinden, J. S., Plantinga, M., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., Ranchor, A. V. & van Langen, I. M., 27-Apr-2020, In: EJHG. 28, 9, p. 1187-1195 9 p.

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

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert, J. C., Verhagen, J. M. A., Yotti, R., Haghighi, A., Phelan, D. G., James, P. A., Brown, N. J., Stutterd, C., Macciocca, I., Leong, KE., Bulthuis, M. L. C., van Bever, Y., van Slegtenhorst, M. A., Boven, L. G., Roberts, A. E., Agarwal, R., Seidman, J., Lakdawala, N. K., Fernández-Avilés, F., Burke, M. A. & 12 others, Pierpont, M. E., Braunlin, E., Ḉağlayan, A. O., Barge-Schaapveld, D. Q. C. M., Birnie, E., van Osch-Gevers, L., van Langen, I. M., Jongbloed, J. D. H., Lockhart, P. J., Amor, D. J., Seidman, C. E. & van de Laar, I. M. B. H., Jul-2020, In: American Heart Journal. 225, p. 108-119 12 p.

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

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Schuurmans, J., Birnie, E., Ranchor, A., Abbott, K. M., Fenwick, A., Lucassen, A., Berger, M. Y., Verkerk, M., van Langen, I. M. & Plantinga, M., Feb-2020, In: EJHG. 28, 2, p. 182-192 11 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