Astrid Plomp

DR.

Affiliatie UvA Medical Specialist, Human Genetics

Specialization

Focus of research

Latest publications

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
Ghaleb, Y. E., Fernández-Quintero, M. L., Campiglio, M., Tuluc, P., Höing, A.-S., Kortüm, F., Motazacker, M. M., Jansen, I. E., Elting, M. W., Plomp, A. S., Fischer, A.-L. M., Siu, V. M., Kutsche, K. & Flucher, B. E., 18 Aug 2025, In: PLoS genetics. 21, 8 August, e1011828.
Research output: Contribution to journal › Article › Academic › peer-review
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Pérez Baca, M. D. R., Palomares-Bralo, M., Vanhooydonck, M., Hamerlinck, L., D'haene, E., Leimbacher, S., Jacobs, E. Z., de Cock, L., D'haenens, E., Dheedene, A., Malfait, Z., Vantomme, L., Silva, A., Rooney, K., Zhao, X., Saeidian, A. H., Owen, N. M., Santos-Simarro, F., Lleuger-Pujol, R. & García-Miñaúr, S. & 94 others, Losantos-García, I., Menten, B., Gestri, G., Ragge, N., Scott, A., Iglesias, A., McConkie-Rosell, A., Kritzer, A., Boto, A., Lewis, A. M., Tzschach, A., Nicosia, A., O'Donnell-Luria, A., Peron, A., Thuresson, A.-C., Vulto-van-Silfhout, A., Novelli, A., Plomp, A. S., Gangaram, B., Gil-Fournier, B., Keren, B., Genetti, C., de Luca, C., Schaaf, C. P., Beneteau, C., Graziani, D., Scott, D. A., Koolen, D. A., Geneviéve, D., Bax, D., Leslie, E. J., Mizerik, E., Roeder, E., Magness, E., Nibbeling, E., Lesca, G., Annerén, G. R., Enns, G. M., van Esch, H., Goel, H., Quintela, I., Cobben, J., Morrison, J. L., Eiris, J., Stoler, J., Gao, J., Steindl, K., Dipple, K., Kolokotronis, K., Seaver, L. H., Pollack, L., Motazacker, M., Gasparri, M., Sinnema, M., Digilio, M. C., McDonald, M. T., Ramírez, M. I., Doco-Fenzy, M., Kucharczyk, M., Nizon, M., Boothe, M., O'Leary, M. C., Carter, M. T., Ross, M., Wilson, M., Klaassens, M., Ginevrino, M., Wojcik, M. H., Robin, N., Chatron, N., Boute, O., Agrawal, P., Fontana, P., Zanoni, P., Joset, P., Torring, P. M., Billie Au, P. Y., Stevens, S., León, S. R., Baskin, S., DiTroia, S. P., Siow, S.-F., Demaret, T., Plaiasu, V., Clowes, V., Luo, X., Hilhorst-Hofstee, Y., Sadikovic, B., Bogaert, E., Vleminckx, K., Naert, T., Syx, D., Callewaert, B. & Vergult, S., 5 Jun 2025, In: American journal of human genetics. 112, 6, p. 1388-1414 27 p.
Research output: Contribution to journal › Article › Academic › peer-review
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)
Hensman, J., van Schooneveld, M. J., Diederen, R. M. H., Plomp, A. S., de Muijnck, C., ten Brink, J. B., Florijn, R. J., de Baere, E., van Genderen, M. M. & Boon, C. J. F., 2025, (E-pub ahead of print) In: Ophthalmic genetics.
Research output: Contribution to journal › Article › Professional
All publications

Astrid Plomp

Specialization

Focus of research

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

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