Amsterdam Reproduction & Development

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Mackay, D. J. G., Gazdagh, G., Monk, D., Brioude, F., Giabicani, E., Krzyzewska, I. M., Kalish, J. M., Maas, S. M., Kagami, M., Beygo, J., Kahre, T., Tenorio-Castano, J., Ambrozaitytė, L., Burnytė, B., Cerrato, F., Davies, J. H., Ferrero, G. B., Fjodorova, O., Manero-Azua, A., Pereda, A., & 12 othersRusso, S., Tannorella, P., Temple, K. I., Õunap, K., Riccio, A., de Nanclares, G. P., Maher, E. R., Lapunzina, P., Netchine, I., Eggermann, T., Bliek, J. & Tümer, Z., 1 Dec 2024, In: Clinical epigenetics. 16, 1, 99.

Research output: Contribution to journal › Review article › Academic › peer-review

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Maas, S. M., Krzyzewska, I. M., Lombardi, M. P. R., Mannens, M. M. A., Vos, N. & Bliek, J., Jun 2023, In: European Journal of Human Genetics. 31, 6, p. 615-616 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Sex-specific newborn screening for X-linked adrenoleukodystrophy

Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 othersKemp, S., 17 Jan 2023, In: Journal of inherited metabolic disease. 46, 1, p. 116-128 13 p.

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