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Alexander Stegmann

20102019

Research output per year

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Research Output

  • 36 Article
  • 3 Erratum / corrigendum
  • 3 Review article
  • 2 Comment/Letter to the editor

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

15 Feb 2019, In : Nature Communications. 10, p. 1-4 4 p., 883.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C., Stegmann, A. P. A., Stoebe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., 7 Feb 2019, In : American Journal of Human Genetics. 104, 2, p. 203-212 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J. & Willemsen, M. H., Jan 2019, In : Epilepsia. 60, 1, p. 155-164 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 30 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buettner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J. & Stegmann, A. P. A., 15 Oct 2019, In : Nature Communications. 10, 17 p., 4679.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M. A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A. P. A., Prada, C. E., Hopkin, R. J. & 53 others, Shieh, J. T., McWalter, K., Monaghan, K. G., van Hasselt, P. M., van Gassen, K., Bai, T., Long, M., Han, L., Quan, Y., Chen, M., Zhang, Y., Li, K., Zhang, Q., Tan, J., Zhu, T., Liu, Y., Pang, N., Peng, J., Scott, D. A., Lalani, S. R., Azamian, M., Mancini, G. M. S., Adams, D. J., Kvarnung, M., Lindstrand, A., Nordgren, A., Pevsner, J., Osei-Owusu, I. A., Romano, C., Calabrese, G., Galesi, O., Gecz, J., Haan, E., Ranells, J., Racobaldo, M., Nordenskjold, M., Madan-Khetarpal, S., Sebastian, J., Ball, S., Zou, X., Zhao, J., Hu, Z., Xia, F., Liu, P., Rosenfeld, J. A., de Vries, B. B. A., Bernier, R. A., Xu, Z-Q. D., Li, H., Xie, W., Hufnagel, R. B., Eichler, E. E. & Xia, K., Sep 2019, In : Science advances. 5, 9, 16 p., 2166.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access