Amsterdam Reproduction & Development

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 othersWaisfisz, Q., Alders, M., Sailer, S., Schaaf, C. P., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.

Research output: Contribution to journal › Article › Academic › peer-review

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

van Berkel, A. A., Lammertse, H. C. A., Öttl, M., Koopmans, F., Misra-Isrie, M., Meijer, M., Dilena, R., van Hasselt, P. M., Engelen, M., van Haelst, M., Smit, A. B., van der Sluis, S., Toonen, R. F. & Verhage, M., Jan 2024, In: Biological Psychiatry Global Open Science. 4, 1, p. 284-298 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

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 othersWaisfisz, Q., Alders, M., Sailer, S., Schaaf, C. P., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 18 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101050

Research output: Contribution to journal › Article › Academic › peer-review