Johanna van Hagen

DR.

20012019
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Research Output 2001 2019

  • 32 Article
  • 4 Review article
  • 1 Comment/Letter to the editor

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

Isrie, M., Wong, L., van Hagen, J. M. & Houweling, A. C., 2019, In : Netherlands Heart Journal. 27, 1, p. 54-55

Research output: Contribution to journalComment/Letter to the editorAcademic

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E. & 19 othersAltmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In : American journal of human genetics. 103, 3, p. 431-439

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 othersHuber, I., Iascone, M., Kaiser, A-S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., van Haeringen, A., van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., 2018, In : Human Mutation. 39, 9, p. 1226-1237

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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