Amsterdam Reproduction & Development

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders

Brioude, F., Haagmans, M. A., Mannens, M., Netchine, I., Alders, M., Henneman, P. & Bliek, J., 1 Dec 2025, In: Clinical epigenetics. 17, 1, 119.

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

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 others, Russo, 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