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Collaborations and top research areas from the last five years
Research output
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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
Open AccessFile18 Downloads (Pure) -
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, , 1 Dec 2024, In: Clinical epigenetics. 16, 1, 99.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile32 Downloads (Pure) -
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 others, , 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
Open AccessFile38 Downloads (Pure) -
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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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z. & Riccio, A. & 9 others, , Dec 2022, In: Clinical epigenetics. 14, 1, 143.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure)
Datasets
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Additional file 7: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878920, https://springernature.figshare.com/articles/Additional_file_7_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878920
Dataset
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Additional file 10: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878860.v1, https://springernature.figshare.com/articles/Additional_file_10_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878860/1
Dataset
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Additional file 3: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878887.v1, https://springernature.figshare.com/articles/Additional_file_3_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878887/1
Dataset
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Additional file 8: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878923, https://springernature.figshare.com/articles/Additional_file_8_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878923
Dataset
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Additional file 4: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878896, https://springernature.figshare.com/articles/Additional_file_4_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878896
Dataset