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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 others , 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, 100289.Research output: Contribution to journal › Article › Academic › peer-review
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Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
de Muijnck, C., van Schooneveld, M. J., Plomp, A. S., Rodenburg, R. J., van Genderen, M. M. & Boon, C. J. F., 1 Jun 2024, In: American Journal of Ophthalmology Case Reports. 34, 102070.Research output: Contribution to journal › Article › Academic › peer-review
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A., Louie, R. J., & 15 others , 1 May 2024, In: Genetics in medicine. 26, 5, 101075.Research output: Contribution to journal › Article › Academic › peer-review
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