Amsterdam Reproduction & Development

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

Conijn, T., van Dijke, I., Haverman, L., Lakeman, P., Wijburg, F. A. & Henneman, L., Jul 2021, In: Journal of community genetics. 12, 3, p. 311-323 13 p.

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

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

Sallevelt, S. C. E. H., Stegmann, A. P. A., de Koning, B., Velter, C., Steyls, A., van Esch, M., Lakeman, P., Yntema, H., Esteki, M. Z., de Die-Smulders, C. E. M., Gilissen, C., van den Wijngaard, A., Brunner, H. G. & Paulussen, A. D. C., Jun 2021, In: Genetics in medicine. 23, 6, p. 1125-1136 12 p.

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

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., Schnappauf, O., Beck, D. B., Brewer, C., Parikh, A. S., Shinde, D. N., Donaldson, A., Brautbar, A., Koene, S., van Haeringen, A., Piton, A., Capri, Y., Furlan, M., Gardella, E. & Møller, R. S. & 28 others, van de Beek, I., Zuurbier, L., Lakeman, P., Bayat, A., Martinez, J., Signer, R., Torring, P. M., Engelund, M. B., Gripp, K. W., Amlie-Wolf, L., Henderson, L. B., Midro, A. T., Tarasów, E., Stasiewicz-Jarocka, B., Moskal-Jasinska, D., Vos, P., Boschann, F., Stoltenburg, C., Puk, O., Mero, I.-L., Lossius, K., Mignot, C., Keren, B., Acosta Guio, J. C., Briceño, I., Gomez, A., Yang, Y. & Stankiewicz, P., May 2021, In: American journal of medical genetics. Part A. 185, 5, p. 1366-1378 13 p.

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