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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, , 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.Research output: Contribution to journal › Article › Academic › peer-review
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FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype
Arduç, A., Zuurbier, L. C., van Maarle, M. C., Lauffer, P., Verbeke, J. I. M. L., Bax, C. J., van Tuyl, M., Hochstenbach, R. & Pajkrt, E., 2025, (E-pub ahead of print) In: Clinical Genetics.Research output: Contribution to journal › Article › Academic › peer-review
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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 others, , 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 10 p., 100289.Research output: Contribution to journal › Article › Academic › peer-review
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