Raoul Hennekam

PROF.DR.

APH - Quality of Care Affiliatie UvA Full Professor, General Pediatrics Other Academic Staff, Pediatrics

Specialization

Pediatrics; Clinical Genetics; Translational Medicine

Focus of research

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.

Latest publications

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
Matthews, H. S., Palmer, R. L., Baynam, G. S., Quarrell, O. W., Klein, O. D., Spritz, R. A., Hennekam, R. C., Walsh, S., Shriver, M., Weinberg, S. M., Hallgrimsson, B., Hammond, P., Penington, A. J., Peeters, H. & Claes, P. D., 1 Dec 2021, In: Scientific reports. 11, 1, 12175.
Research output: Contribution to journal › Article* › Academic › peer-review
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study: a prospective, observational, multi-center study
Postema, F. A. M., Hopman, S. M. J., de Borgie, C. A. J. M., Aalfs, C. M., Anninga, J. K., Berger, L. P. V., Bleeker, F. E., Dommering, C. J., van Eijkelenburg, N. K. A., Hammond, P., van den Heuvel-Eibrink, M. M., Hol, J. A., Kors, W. A., Letteboer, T. G. W., Loeffen, J. L. C. M., Meijer, L., Olderode-Berends, M. J. W., Wagner, A., Hennekam, R. C. & Merks, J. H. M., Oct 2021, In: Familial cancer. 20, 4, p. 263-271 9 p.
Research output: Contribution to journal › Article* › Academic › peer-review
Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))
Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., France, G. D. I., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J.-C., Lacombe, D., van-Gils, J., Fergelot, P., Dubourg, C., Cormier-Daire, V., Rondeau, S., Lecoquierre, F., Saugier-Veber, P., Nicolas, G., Lesca, G., Chatron, N., Sanlaville, D. & Vitobello, A. & 49 others, Faivre, L., Thauvin-Robinet, C., Laumonnier, F., Raynaud, M., Alders, M., Mannens, M., Henneman, P., Hennekam, R. C., Velasco, G., Francastel, C., Ulveling, D., Ciolfi, A., Pizzi, S., Tartaglia, M., Heide, S., Héron, D., Mignot, C., Keren, B., Whalen, S., Afenjar, A., Bienvenu, T., Campeau, P. M., Rousseau, J., Levy, M. A., Brick, L., Kozenko, M., Balci, T. B., Siu, V. M., Stuart, A., Kadour, M., Masters, J., Takano, K., Kleefstra, T., de Leeuw, N., Field, M., Shaw, M., Gecz, J., Ainsworth, P. J., Lin, H., Rodenhiser, D. I., Friez, M. J., Tedder, M., Lee, J. A., DuPont, B. R., Stevenson, R. E., Skinner, S. A., Schwartz, C. E., Genevieve, D. & Sadikovic, B., 3 Jun 2021, In: American journal of human genetics. 108, 6, p. 1161-1163 3 p.
Research output: Contribution to journal › Comment/Letter to the editor* › Academic
All publications

Raoul Hennekam

Specialization

Focus of research

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study: a prospective, observational, multi-center study

Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

Amsterdam UMC makes use of cookies