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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
Hildonen, M., Ciolfi, A., Ferilli, M., Cappelletti, C., Al Alam, C., Amor, D. J., Barakat, T. S., Benoit, V., Birk, O. S., Callewaert, B., Cazurro-Gutiérrez, A., de Wachter, M., Doco-Fenzy, M., Gómez-Puertas, P., Hammer, T. B., Jamra, R. A., Kaiyrzhanov, R., Kameyama, S., Keren, B. & Kresge, C. & 21 others, , Jul 2025, In: European journal of human genetics. 33, 7, p. 896-903 8 p., 104522.Research output: Contribution to journal › Article* › Academic › peer-review
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, , 1 Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant
O'Neill, M. J., Chen, S. N., Rumping, L., Johnson, R., van Slegtenhorst, M., Glazer, A. M., Yang, T., Solus, J. F., Laudeman, J., Mitchell, D. W., Vanags, L. R., Kroncke, B. M., Anderson, K., Gao, S., Verdonschot, J. A. J., Brunner, H., Hellebrekers, D., Taylor, M. R. G., Roden, D. M. & Wessels, M. W. & 4 others, , Aug 2023, In: Heart rhythm. 20, 8, p. 1158-1166 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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