Ron Hochstenbach

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 othersHochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.

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

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 othersHochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.

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

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

Hochstenbach, PFR., Hastings, R. J. & Liehr, T., Apr 2021, In: European Journal of Human Genetics. 29, 4, p. 541-552 12 p., PMID: 33311710.

Research output: Contribution to journal › Review article › Academic › peer-review