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Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
Kumps, C., D’haenens, E., Kerkhof, J., McConkey, H., Alders, M., Sadikovic, B. & Vanakker, O. M., Dec 2023, In: European journal of human genetics. 31, 12, p. 1350-1354 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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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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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., de Villemeur, T. B., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B., Misra-Isrie, M., & 6 others , 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.Research output: Contribution to journal › Article › Academic › peer-review
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