Amsterdam Reproduction & Development

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.

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

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

Performance of non-invasive prenatal testing in vanishing-twin and multiple pregnancies: results of TRIDENT-2 study

van Eekhout, J. C. A., Bax, C. J., Schuurman, L. V. P., Becking, E. C., van der Ven, A. J. E. M., van Opstal, D., Boon, E. M. J., Macville, M. V. E., Bekker, M. N., Galjaard, R. J. H. & The Dutch NIPT Consortium, 2025, (E-pub ahead of print) In: Ultrasound in Obstetrics and Gynecology.

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