Amsterdam Reproduction & Development

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

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H., Kuechler, A., & 72 othersElffers, B., van Beeck Calkoen, R., Hofman, S., Smith, A., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S-M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., O'Connor, M., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K. B., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Muir, A. M., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American journal of human genetics. 111, 8, p. 1605-1625 21 p.

Research output: Contribution to journal › Article › Academic › peer-review

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 othersHochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.

Research output: Contribution to journal › Article › Academic › peer-review