Specialization
Clinical Genetics
Focus of research
Congenital anomalies in the Dutch Caribbean
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DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 others, 18 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101050Research output: Contribution to journal › Article › Academic › peer-review
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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
van der Laan, L., Rooney, K., Haghshenas, S., Silva, A., McConkey, H., Relator, R., Levy, M. A., Valenzuela, I., Trujillano, L., Lasa-Aranzasti, A., Campos, B., Castells, N., Verberne, E. A., Maas, S., Alders, M., Mannens, M. M. A. M., van Haelst, M. M., Sadikovic, B. & Henneman, P., 1 Sept 2023, In: International journal of molecular sciences. 24, 18, 14240.Research output: Contribution to journal › Article › Academic › peer-review
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GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly
Lo-A-Njoe, S. M., Verberne, E. A., van der Veken, L. T., Arends, E., Tintelen, J. P. V., Postma, A. V. & Haelst, M. M. V., 6 Jul 2023, In: Cardiogenetics. 13, 3, p. 106 112 p.Research output: Contribution to journal › Article › Academic › peer-review
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