Specialization
Genetics
Protein modeling
Focus of research
Human Genetics
Amsterdam Gastroenterology Endocrinology Metabolism
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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., Aug 2024, In: Clinical obesity. 14, 4, e12661.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 100289.Research output: Contribution to journal › Article › Academic › peer-review
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
MKHK Research Consortium, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100287 100287.Research output: Contribution to journal › Article › Academic › peer-review
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