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
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Collaborations and top research areas from the last five years
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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
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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
Open AccessFile13 Downloads (Pure) -
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
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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
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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