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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
Rots, D., Rooney, K., Relator, R., Kerkhof, J., McConkey, H., Pfundt, R., Marcelis, C., Willemsen, M. H., van Hagen, J. M., Zwijnenburg, P., Alders, M., Õunap, K., Reimand, T., Fjodorova, O., Berland, S., Liahjell, E. B., Bojovic, O., Kriek, M., Ruivenkamp, C., Bonati, M. T., & 4 others, Jun 2024, In: Clinical genetics. 105, 6, p. 655-660 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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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, 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.Research output: Contribution to journal › Article › Academic › peer-review
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A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release
van Boven, M. A., Mestroni, M., Zwijnenburg, P. J. G., Verhage, M. & Cornelisse, L. N., 2024, (E-pub ahead of print) In: Molecular psychiatry.Research output: Contribution to journal › Article › Academic › peer-review
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