Personal profile
Research interests
Phenotype-(epi)genotype, natural history and behavioral studies in by etiology characterized populations with ID, t.i. Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, Pitt-Hopkins syndrome, Marshall-Smith syndrome.
Knowledge and perceptions of parents and professionals, and outcome measures in terms of Quality of life and participation related to cognition, behavior and functioning in by developmental age/abilities characterized populations, t.i. people with moderate-profound ID and PMID.
Translational, transdisciplinary, transmural and transitional approaches in research and care.
Specialisation
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Collaborations and top research areas from the last five years
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From Hidden Insights to Better Understanding: Physicians’ Perspectives on Caregivers’ Tacit Knowledge
Huisman, S. A., Kruithof, K., Hoogsteyns, M., Nieuwenhuijse, A. M., Willems, D. & Zaal - Schuller, I. H., Jan 2026, In: Healthcare. 14, 1, p. 1-16 25.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Exploring the Relationship Between General Motor Activity and Optimal Actigraphy Sleep Configurations: A Systematic Review
Baarsen, A. M., van den Broek, N. A. A. M., Hilgenkamp, T. I. M., Maes-Festen, D. A. M., Elbers, R. G. & Huisman, S. A., 2025, (E-pub ahead of print) In: Journal of sleep research.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile30 Downloads (Pure) -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., Van der Zee, J. A., Van Genderen, M. M., Van-Gils, J., Waite, J., Adrien, J.-L. & Bartsch, O. & 32 others, , 1 Jun 2024, In: Journal of medical genetics. 61, 6, p. 503-519 17 p., jmg-2023-109438.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile87 Downloads (Pure) -
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
Open AccessFile18 Downloads (Pure) -
Erratum: Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles (Human Genetics and Genomics Advances (2024) 5(3), (S2666247724000265), (10.1016/j.xhgg.2024.100287))
Haghshenas, S., Bout, H. J., MKHK Research Consortium & Menke, L. A., 10 Oct 2024, In: Human Genetics and Genomics Advances. 5, 4, p. 100337 100337.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile33 Downloads (Pure)