Projects per year
Personal profile
Research interests
Focus is directed on the clinical history of known genetic entities; pediatric aspects of care to patients with known genetic entities; translational studies; molecular dysmorphology; functional studies; and behavioral aspects of known entities. Entities that are specifically studied are autism; intellectual disability; connective tissue disorders (especially Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome); disorders with abnormal blood vessel and lymph vessel formation; Hutchinson-Gilford progeria; and many specific syndromes.
Specialisation
Pediatrics; Clinical Genetics; Translational Medicine
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Projects
- 1 Finished
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New syndromes in old genes: New syndromes in old genes Phenotypes caused by CREBBP/EP300 mutations but not resembling Rubinsteun-Taybi syndrome
Hennekam, R. (Principal investigator) & Menke, L. (Project Leader)
01/01/2019 → 01/04/2020
Project: Research
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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
Writzl, K., Maver, A., Kovačič, L., Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radović, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A. & Hennekam, R. C., 2017, In: American journal of human genetics. 101, 5, p. 844-855Research output: Contribution to journal › Article › Academic › peer-review
52 Citations (Scopus) -
A specific mutation in TBL1XR1 causes Pierpont syndrome
Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., Pierpont, M. E., Schaefer, G. B., Stewart, F., van Trotsenburg, A. S. P., Fliers, E., Schwabe, J. W. R. & Hennekam, R. C., 2016, In: Journal of medical genetics. 53, 5, p. 330-337Research output: Contribution to journal › Article › Academic › peer-review
61 Citations (Scopus) -
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
Rutsch, F., Macdougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G. I., Erlandsen, H., Kehl, H. G., Thiele, H., Nürnberg, P., Höhne, W., Crow, Y. J., Feigenbaum, A. & Hennekam, R. C., 2015, In: American journal of human genetics. 96, 2, p. 275-282Research output: Contribution to journal › Article › Academic › peer-review
186 Citations (Scopus) -
Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A.-M., Posmyk, R., Battisti, C., Casertano, A. & Melis, D. & 7 others, , 2014, In: Nature genetics. 46, 8, p. 815-817Research output: Contribution to journal › Article › Academic › peer-review
80 Citations (Scopus) -
Next-Generation Sequencing Demands Next-Generation Phenotyping
Hennekam, R. C. M. & Biesecker, L. G., 2012, In: Human mutation. 33, 5, p. 884-886Research output: Contribution to journal › Article › Academic › peer-review
143 Citations (Scopus)