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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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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, p. 100289 100289.Research output: Contribution to journal › Article › Academic › peer-review
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
Pérez Baca, M. D. R., Jacobs, E. Z., Vantomme, L., Leblanc, P., Bogaert, E., Dheedene, A., de Cock, L., Haghshenas, S., Foroutan, A., Levy, M. A., Kerkhof, J., McConkey, H., Chen, C-A., Batzir, N. A., Wang, X., Palomares, M., Carels, M. & ZFHX3 consortium, 7 Mar 2024, In: American journal of human genetics. 111, 3, p. 509-528 20 p.Research output: Contribution to journal › Article › Academic › peer-review
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