Astrid Plomp

20072020

Research output per year

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Research Output

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., 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., Huber, I. & 38 others, Iascone, M., Kaiser, A. S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., 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., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., van Haeringen, A., van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S. & Hennekam, R. C., 2020, In : Journal of Intellectual Disability Research.

Research output: Contribution to journalArticleAcademicpeer-review

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 others, Moilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., 1 Oct 2019, In : Genetics in Medicine. 21, 10, p. 2355-2363 9 p.

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., 1 Oct 2019, In : Molecular Genetics and Genomic Medicine. 7, 10, e00943.

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 others, Huber, 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