Cancer Center Amsterdam

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review

van der Laan, L., Kleinendorst, L., van Hagen, J. M., Waisfisz, Q. & van Haelst, M. M., 1 Oct 2024, In: European journal of medical genetics. 71, 104964.

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., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.

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