Linda Zuurbier

Affiliatie UvA Other Academic Staff, Human Genetics

Specialization

Focus of research

Latest publications

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J.-M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E., Gardeitchik, T., Aarts, L. A., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, Zuurbier, L. C., Plomp, A. S., Wessels, M. W., de Man, S. A., Bouman, A., Bird, L. M., Saadeh-Haddad, R., Guillen Sacoto, M. J., Person, R., Gooch, C., Hurst, A. C., Thompson, M. L., Hiatt, S. M., Littlejohn, R. O., Roeder, E. R., Mori, M., Hickey, S. E., Hunter, J. M., Lee, K., Osman, K., Halloun, R., Bachmann-Gagescu, R., Rauch, A., Wieczorek, D., Platzer, K., Luppe, J., Duplomb-Jego, L., el It, F., Duffourd, Y., Tran Mau-Them, F., Huber, C., Gordon, C. T., Taylan, F., Mäkitie, R. E., Costantini, A., Valta, H., Robertson, S., Poke, G., Francoise, M., Ciolfi, A., Tartaglia, M., Ekhilevitch, N., Zaid, R., Levy, M. A., Kerkhof, J., McConkey, H., Delanne, J., Chevarin, M., Vautrot, V., Bourgeois, V., Nguyen, S., Marle, N., Callier, P., Safraou, H., Morgan, A., Amor, D. J., Hildebrand, M. S., Coman, D., Aubert Mucca, M., Thevenon, J., Laffargue, F., Bilan, F., Pebrel-Richard, C. L., Yoon, G., Axford, M. M., Pérez-Jurado, L. A., Sevilla-Porras, M., Black, D. L., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Olivier-Faivre, L., Ori, M., Thomas, Q. & Vitobello, A., 17 Nov 2025, In: Journal of Clinical Investigation. 135, 22
Research output: Contribution to journal › Article › Academic › peer-review
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Asadollahi, R., Ahmad, A., Boonsawat, P., Shahanoor Hinzen, J., Lohse, M., Bouazza-Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K. & Reinson, K. & 130 others, Wojcik, M. H., Marshall, C. R., Mercimek-Andrews, S., Matsumoto, N., Miyake, N., Stephan, B. D. O., Honjo, R. S., Bertola, D. R., Kim, C. A., Yusupov, R., Mefford, H. C., Christodoulou, J., Lee, J., Heath, O., Brown, N. J., Baker, N., Stark, Z., Delatycki, M., Lake, N. J., Zeidler, S., Zuurbier, L., Maas, S. M., de Kruiff, C. C., Rajabi, F., Rodan, L. H., Coury, S. A., Platzer, K., Oppermann, H., Abou Jamra, R., Beblo, S., Maxton, C., Śmigiel, R., Underhill, H., Dubbs, H., Rosen, A., Helbig, K. L., Helbig, I., Ruggiero, S. M., Fitzgerald, M. P., Kraemer, D., Prada, C. E., Tenney, J., Jayakar, P., Redon, S., Lefranc, J. R., Uguen, K., Race, S., Efthymiou, S., Maroofian, R., Houlden, H., Coppens, S., Deconinck, N., Ashokkumar, B., Varalakshmi, P., Gowda K, V. R., Eghbal, F., Ghayoor Karimiani, E., Heidari, M., Neidhardt, J., Owczarek-Lipska, M., Korenke, G. C., Bamshad, M. J., Campeau, P. M., Lehman, A., Hendon, L. G., Wentzensen, I. M., Monaghan, K. G., Chen, Y., Szuto, A., Cohn, R. D., Au, P. Y. B., Hübner, C., Boschann, F., Manickam, K., Koboldt, D. C., Rad, A., Oprea, G., Bachman, K. K., Seeley, A. H., Agolini, E., Terracciano, A., Carmelo, P., Bupp, C., Grysko, B., Rein-Rothschild, A., Ben Zeev, B., Margolin, A., Morrison, J., Dagli, A., Stolerman, E., Louie, R. J., Washington, C., Stevens, S. J. C., Heijligers, M., Alkuraya, F. S., Lisfeld, J., Neu, A., Paoli Monteiro, F., Santos Pessoa, A. L., Camelo-Filho, A. E., Kok, F., Koeberl, D., Riley, K., Burglen, L., Doummar, D., Héron, B. N., Mignot, C., Keren, B., Charles, P., Nava, C., Bernhard, F. P., Kühn, A. A., Thoms, S., Morrie, R. D., Mekhoubad, S., Green, E. M., Barmada, S. J., Gitler, A. D., Jahn, O., Rhee, J. S., Rosenmund, C., Mitkovski, M., Sticht, H., Sun, H., le Gac, G., Taschenberger, H., Brose, N., Dittman, J. S., Rauch, A. & Lipstein, N., 1 Nov 2025, In: Nat. Genet.. 57, 11, p. 2691-2704 14 p.
Research output: Contribution to journal › Article › Academic › peer-review
A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)
Mulder, J. W. C. M., ‘t Hart, N., Mulder, M. T., Zuurbier, L. & Roeters van Lennep, J. E., 1 Jan 2025, In: Journal of clinical lipidology. 19, 1, p. 183-187 5 p.
Research output: Contribution to journal › Article › Academic › peer-review
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Linda Zuurbier

Specialization

Focus of research

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)

Research Institutes

Researchers

About Amsterdam UMC Research

News

Research Roadmap

Core facilities

Research Support

Doctoral school

Linda Zuurbier

Specialization

Focus of research

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)

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