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
Projects
- 1 Active
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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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Fatal gastrointestinal complications in Pitt-Hopkins syndrome
Koppen, I. J. N., Menke, L. A., Westra, W. M., Struik, F., Mesman, S., van Wijk, M. P. & Huisman, S. A., Mar 2023, In: American journal of medical genetics. Part A. 191, 3, p. 855-858Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Tacit knowledge in dyads of persons with profound intellectual and multiple disabilities and their caregivers: An interpretative literature study
Hoogsteyns, M., Zaal-Schuller, I., Huisman, S., Nieuwenhuijse, A. M., van Etten-Jamaludi, F., Willems, D. & Kruithof, K., Sept 2023, In: JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES. 36, 5, p. 966-977 12 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access -
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Douzgou, S., Dell’Oro, J., Fonseca, C. R., Rei, A., Mullins, J., Jusiewicz, I., Huisman, S., Simpson, B. N., Vyshka, K., Milani, D., Bartsch, O., Lacombe, D., García-Miñaúr, S. & Hennekam, R. C. M., Jul 2022, In: European journal of human genetics. 30, 7, p. 841-847 7 p.Research output: Contribution to journal › Article › Academic › peer-review
3 Citations (Scopus) -
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020
Oliver, C., Groves, L., Hansen, B. D., Salehi, M., Kheradmand, S., Carrico, C. S., Caudill, P., Mattingly, M., Dorsett, D., Chea, S., Singh, V. P., Krantz, I. D., Huisman, S., Deardorff, M. A. & Kline, A. D., 2021, (E-pub ahead of print) In: American journal of medical genetics. Part A.Research output: Contribution to journal › Comment/Letter to the editor › Academic
1 Citation (Scopus) -
High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Pablo, M. J., Pamplona, P., Haddad, M., Benavente, I., Latorre-Pellicer, A., Arnedo, M., Trujillano, L., Bueno-Lozano, G., Kerr, L. M., Huisman, S. A., Kaiser, F. J., Ramos, F., Kline, A. D., Pie, J. & Puisac, B., 1 Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 458.Research output: Contribution to journal › Article › Academic › peer-review
Open Access