Amsterdam Reproduction & Development

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

van der Laan, L., Karimi, K., Rooney, K., Alders, M., Brusco, A., Lasa-Aranzasti, A., Brunetti-Pierri, N., Cueto-Gonzalez, A. M., DuPont, B. R., Cappuccio, G., Dubourg, C., Everman, D., Gatinois, V., Ganne, B., Genevieve, D., Ferrero, G. B., Kempers, M., Levy, M. A., Niceta, M. & Novelli, A. & 19 others, Orlando, V., Odent, S., Patterson, W. G., Polstra, A. M., Roscioli, T., Ruiz-Pallares, N., Sabbagh, Q., Trajkova, S., Tartaglia, M., Tedder, M. A., Toutain, A., Koehler, U., Valenzuela, I., van Hagen, J. M., van der Kevie-Kersemaekers, A.-M., Henneman, P., Mannens, M. M. A. M., Sadikovic, B. & van Haelst, M. M., 2025, (E-pub ahead of print) In: European journal of human genetics.

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

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 others, Elffers, 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