Specialization
Clinical Molecular Genetics
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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
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
Eggermann, T., Yapici, E., Bliek, J., Pereda, A., Begemann, M., Russo, S., Tannorella, P., Calzari, L., de Nanclares, G. P., Lombardi, P., Temple, I. K., Mackay, D., Riccio, A., Kagami, M., Ogata, T., Lapunzina, P., Monk, D., Maher, E. R. & Tümer, Z., Dec 2022, In: Clinical epigenetics. 14, 1, 41.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))
Dutch NIPT Consortium, 7 Jul 2022, In: American journal of human genetics. 109, 7, p. 1344 1 p.Research output: Contribution to journal › Article › Academic › peer-review
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