Projects per year
Personal profile
specialisation
ID physician (Dutch: Arts voor Verstandelijk Gehandicapten; AVG)
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.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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The Parent Journey: Navigating in the health care context for Individuals with Rare Genetic Intellectual Disability Syndrome
Nasori, M., Huisman, S., Geukers, V., Oostrom, K. & Haverman, L.
1/09/2023 → 1/09/2026
Project: Research
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ZOM: Opmaat naar zorg op maat: Interprofessionele samenwerking met ouders als experts!
1/07/2023 → 1/07/2026
Project: Research
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MosaCdLS: Modelling neurodevelopmental defects and mosaicism in CdLS using human brain organoids
1/06/2023 → …
Project: Research
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Hennekam R.C.M.: Diagnostics and care for rare disorders
Hennekam, R., Heinen, C., Zwaveling-Soonawala, N., Huisman, S., van de Kar, A., Mitchell, C., Mulder, P. & Postema, F.
1/01/2011 → …
Project: Research
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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. L., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., van der Zee, J. A., Genderen, M. M. V., van-Gils, J., Waite, J., Adrien, J-L., Bartsch, O., & 32 others, 12 Mar 2024, (E-pub ahead of print) In: Journal of medical genetics. jmg-2023-109438.Research output: Contribution to journal › Review 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, 2 Apr 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100289Research output: Contribution to journal › Article › Academic › peer-review
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Healthcare for people with intellectual disabilities in the Netherlands
Huisman, S., Festen, D. & Bakker-van Gijssel, E., 1 Jun 2024, In: JOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES. 21, 2, e12496.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
MKHK Research Consortium, 28 Mar 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100287Research output: Contribution to journal › Article › Academic › peer-review
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SMC1A epilepsy syndrome: clinical data from a large international cohort
Gibellato, E., Cianci, P., Mariani, M., Parma, B., Huisman, S., Śmigiel, R., Bisgaard, A-M., Massa, V., Gervasini, C., Moretti, A., Cattoni, A., Biondi, A. & Selicorni, A., 2024, (E-pub ahead of print) In: American journal of medical genetics. Part A.Research output: Contribution to journal › Article › Academic › peer-review