Astrid Plomp

20182019
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Research Output 2018 2019

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P. I., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G. N., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L. & 6 othersMoilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., 1 Oct 2019, In : Genetics in Medicine. 21

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: Extending the RP1 disease spectrum

Verbakel, S. K., van Huet, R. A. C., den Hollander, A. I., Geerlings, M. J., Kersten, E., Klevering, B. J., Klaver, C. C. W., Plomp, A. S., Wesseling, N. L., Bergen, A. A. B., Nikopoulos, K., Rivolta, C., Ikeda, Y., Sonoda, K-H., Wada, Y., Boon, C. J. F., Nakazawa, T., Hoyng, C. B. & Nishiguchi, K. M., 2019, In : Investigative Ophthalmology and Visual Science. 60, 4, p. 1192-1203

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

Cozijnsen, L., Plomp, A. S., Post, J. G., Pals, G., Bogunovic, N., Yeung, K. K., Niessen, H. W. M., Goumans, M-J. T. H., Barge-Schaapveld, D. Q. C. M. & Micha, D., 2019, In : Molecular Genetics and Genomic Medicine. e943.

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