Projects per year
Personal profile
specialisation
Clinical Molecular Genetics
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J., Krzyzewska, I., Li Yim, A., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R., Lombardi, P., Mook, O., Motazacker, M. & Redeker, B.
1/02/2007 → …
Project: Research
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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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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
The Dutch NIPT Consortium & Dutch NIPT Consortium, 2 Jun 2022, In: American journal of human genetics. 109, 6, p. 1140-1152 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access42 Citations (Scopus) -
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
Open Access4 Citations (Scopus) -
Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics
Mannens, M. M. A. M., Lombardi, M. P., Alders, M., Henneman, P. & Bliek, J., 4 Jul 2022, In: Frontiers in genetics. 13, 831452.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access6 Citations (Scopus) -
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization
Hol, J. A., Kuiper, R. P., van Dijk, F., Waanders, E., van Peer, S. E., Koudijs, M. J., Bladergroen, R., van Reijmersdal, S. V., Morgado, L. M., Bliek, J., Lombardi, M. P., Hopman, S., Drost, J., de Krijger, R. R., van den Heuvel-Eibrink, M. M. & Jongmans, M. C. J., 10 Jun 2022, In: Journal of clinical oncology. 40, 17, p. 1892-1902 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access27 Citations (Scopus)