Amsterdam Reproduction & Development

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, Wilke, M., Weerts, M. J. A., van Minkelen, R., Wagner, A., Bouman, A., van Paassen, B. W., Verheijen-Mancini, G. M., van de Laar, I. M. B. H., Kievit, A. J. A., Verhagen, J. M. A., Stuurman, K. E., Donker Kaat, L., van Dooren, M. F., Wessels, M. W., Oldenburg, R. A., Zeidler, S., van Dijk, T., Barakat, T. S., Verhoeven, V. J. M., van Bever, Y., van Ierland, Y., Bannink, N., van Koningsbruggen, S., Lakeman, P., Leeuwen, L., Verbeek, N. E., Sinnema, M., Heijligers, M., van Asperen, C. J., Saris, J. J., Nellist, M. & van Ham, T. J., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.

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

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach

van den Berg, G., Claus, L. R., van der Zwaag, B., Lakeman, P., Kaasenbrood, L., Sayer, J. A., Lilien, M. R. & van Eerde, A. M., 1 Aug 2024, In: NEPHRON. 148, 8, p. 569-577 9 p.

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

Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study

Klein, D., van Dijke, I., van Langen, I. M., Dondorp, W., Lakeman, P., Henneman, L. & Cornel, M. C., 1 Jul 2024, In: Reproductive BioMedicine Online. 49, 1, 103857.

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