Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population

Dijkstra, T., van den Heuvel, L. M., van Tintelen, J. P., van der Werf, C., van Langen, I. M. & Christiaans, I., 27-mrt.-2023, (E-pub ahead of print) In: European Journal of Human Genetics. 6 blz.

Onderzoeksoutput › Academic › peer review

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

on behalf of RADICON-NL consortium, Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., & 5 anderenvan Amstel, H. K. P., de Boode, W. P., van Zelst-Stams, W. A. G., Frederix, G. W. J. & Vissers, L. E. L. M., jun.-2023, In: European Journal of Pediatrics. 182, 6, blz. 2683-2692 10 blz.

Onderzoeksoutput › Academic › peer review

Societal implications of expanded universal carrier screening: a scoping review

van den Heuvel, L. M., van den Berg, N., Janssens, A. C. J. W., Birnie, E., Henneman, L., Dondorp, W. J., Plantinga, M. & van Langen, I. M., 2023, In: European Journal of Human Genetics. 31, blz. 55–72 18 blz.

Onderzoeksoutput › peer review

A couple based approach to expanded carrier screening in a fertility setting

Schuurmans, J., Plantinga, M., Fenwick, A., van Langen, I. & Lucassen, A., apr.-2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 573-573 1 blz.

Onderzoeksoutput › Academic

Estimating the penetrance of genetic variants linked to cardiomyopathy

De Brouwer, R., Nieuwhof, K., Van Langen, I. M., Birnie, E., Van Den Berg, M. P. & De Boer, R. A., jul.-2022, In: European Journal of Heart Failure. 24, blz. 222-222 1 blz.

Onderzoeksoutput › Academic