Raoul Hennekam


1990 …2019

Research output per year

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Research Output

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Angius, A., Uva, P., Oppo, M., Persico, I., Onano, S., Olla, S., Pes, V., Perria, C., Cuccuru, G., Atzeni, R., Serra, G., Cucca, F., Sotgiu, S., Hennekam, R. C. & Crisponi, L., 1 Apr 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 634-638

Research output: Contribution to journalArticleAcademicpeer-review

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernández-Jaén, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., 1 Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Zollino, M., Zweier, C., van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., de Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F. & 12 others, Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., van Balkom, H., Whalen, S. & Hennekam, R. C., 1 Apr 2019, In : Clinical Genetics. 95, 4, p. 462-478

Research output: Contribution to journalReview articleAcademicpeer-review

Dihydropyrimidine dehydrogenase deficiency: Homozygosity for an extremely rare variant in DPYD due to uniparental isodisomy of chromosome 1

van Kuilenburg, A. B. P., Meijer, J., Meinsma, R., Pérez-Dueñas, B., Alders, M., Bhuiyan, Z. A., Artuch, R. & Hennekam, R. C. M., 1 Jan 2019, JIMD Reports. Springer, Vol. 45. p. 65-69 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

de la Dure-Molla, M., Fournier, B. P., Manzanares, M. C., Acevedo, A. C., Hennekam, R. C., Friedlander, L., Boy-Lefèvre, M-L., Kerner, S., Toupenay, S., Garrec, P., Vi-Fane, B., Felizardo, R., Berteretche, M-V., Jordan, L., Ferré, F., Clauss, F., Jung, S., de Chalendar, M., Troester, S., Kawczynski, M. & 5 others, Chaloyard, J., Manière, M. C. C., Berdal, A., Bloch-Zupan, A. & International Group of Dental Nomenclature, 1 Oct 2019, In : American Journal of Medical Genetics, Part A. 179, 10, p. 1913-1981

Research output: Contribution to journalArticleAcademicpeer-review