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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
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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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Identification of the DNA methylation signature of Mowat-Wilson syndrome
Caraffi, S. G., van der Laan, L., Rooney, K., Trajkova, S., Zuntini, R., Relator, R., Haghshenas, S., Levy, M. A., Baldo, C., Mandrile, G., Lauzon, C., Cordelli, D. M., Ivanovski, I., Fetta, A., Sukarova, E., Brusco, A., Pavinato, L., Pullano, V., Zollino, M., McConkey, H., & 4 others, Jun 2024, In: European journal of human genetics. 32, 6, p. 619-629 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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