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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Fischer, J., Alders, M., Mannens, M. M. A. M., Genevieve, D., Hackmann, K., Schröck, E., Sadikovic, B. & Porrmann, J., Dec 2025, In: Clinical epigenetics. 17, 1, p. 5 1 p., 5.Research output: Contribution to journal › Article* › Academic › peer-review
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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Pérez Baca, M. D. R., Palomares-Bralo, M., Vanhooydonck, M., Hamerlinck, L., D'haene, E., Leimbacher, S., Jacobs, E. Z., de Cock, L., D'haenens, E., Dheedene, A., Malfait, Z., Vantomme, L., Silva, A., Rooney, K., Zhao, X., Saeidian, A. H., Owen, N. M., Santos-Simarro, F., Lleuger-Pujol, R. & García-Miñaúr, S. & 94 others, , 5 Jun 2025, In: American journal of human genetics. 112, 6, p. 1388-1414 27 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karimi, K., Lichtenstein, Y., Reilly, J., McConkey, H., Relator, R., Levy, M. A., Kerkhof, J., Bouman, A., Symonds, J. D., Ghoumid, J., Smol, T., Clarkson, K., Drazba, K., Louie, R. J., Miranda, V., McCann, C., Motta, J., Lancaster, E., Sallevelt, S. & Sidlow, R. & 28 others, , 6 Feb 2025, In: American journal of human genetics. 112, 2, p. 414-427 14 p.Research output: Contribution to journal › Article* › Academic › peer-review
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