Petra Zwijnenburg

19992019
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Research Output 1999 2019

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 othersReyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., 1 Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286

Research output: Contribution to journalArticleAcademicpeer-review

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., van Allen, M., Grønborg, S., Mercier, S., Küry, S. B. & 42 othersBézieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Billette de Villemeur, T., Keren, B., Désir, J., van Maldergem, L., Marangoni, M., Dikow, N., Koolen, D. A., VanHasselt, P. M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C. F., López-Otín, C., Santiago-Fernández, O., Fernández-Jaén, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Undiagnosed Diseases Network, Davids, M., Sullivan, J. A., Au, M., Pérez-Jurado, L. A., Kleefstra, T., Penzes, P., Wood, S. A., Burne, T., Pierson, T., Piper, M., Gecz, J. & Jolly, L. A., 1 Jan 2019, In : Biological Psychiatry.

Research output: Contribution to journalArticleAcademicpeer-review

Designing a classification system to determine the severity of microphthalmia and anophthalmia

Groot, A. L. W., Kuijten, M. M. P., Gilani, A., Kraal-Biezen, E., de Graaf, P., Zwijnenburg, P., Saeed, P., Moll, A. C. & Hartong, D. T., Mar 2018, In : Acta Ophthalmologica. 96, p. 41-42

Research output: Contribution to journalMeeting AbstractAcademic

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

DDD Study, 4 Jul 2018, In : Human Genetics.

Research output: Contribution to journalArticleAcademicpeer-review

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & 1 othersMaugeri, A., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1173-1192 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access