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Anne Herkert

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

    the KPTN Consortium, Rawlins, L. E., Iffland, P. H., Page, J., Flessner, R. Z., Elziny, S. M., Sbornova, I., Babus, J. K., Bruckmeier, S. R., Parikh, R., Verhoeven, M., Fasham, J., Leslie, J. S., Caswell, R., Ubeyratna, N., Wenger, O., Scott, E. M., Schreiber, J., Syrbe, S. & Klabunde-Cherwon, A. & 4 others, Owens, M., Crosby, A. H., Baple, E. L. & Crino, P. B., 2026, (Accepted/In press) In: Annals of Neurology. 99, p. 1287–1302 16 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File

  • CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

    van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9-Jan-2025, In: Human Genetics and Genomics Advances. 6, 1, 10 p., 100380.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    5 Citations (Scopus)
    1 Downloads (Pure)

  • Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

    Blackburn, P. R., Ebstein, F., Hsieh, T. C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 30 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A. M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, J., Jech, R., Winkelmann, J., Koprušáková, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C. F., Lerner-Ellis, J. & DiTroia, S., Jan-2025, In: Annals of Neurology. 97, 1, p. 76-89 14 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    8 Citations (Scopus)
    89 Downloads (Pure)

  • Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants

    van Peer, S. E., Treger, T. D., Wegert, J., Hol, J. A., Le Gall, J., Jakkula, E. E., Kamihara, J., Mullen, E. A., Graf, N., Behjati, S., Al-Saadi, R., Duncan, C., Schienda, J., de Putter, R., Brzezinski, J., Verschuur, A., Michaeli, O., Ortiz, M. V., Herkert, J. C. & Armstrong, R. & 5 others, Waanders, E., Kuiper, R. P., van den Heuvel-Eibrink, M. M., Gessler, M. & Jongmans, M. C. J., Sept-2025, In: Genetics in Medicine. 27, 9, 10 p., 101478.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    1 Citation (Scopus)
    5 Downloads (Pure)

  • Novel variants in the SOX11 gene: clinical description of seven new patients

    Schincariol-Manhe, B., Campagnolo, É., Spineli-Silva, S., de Leeuw, N., Correia-Costa, G. R., Pessoa, A., de Souza, C. F. M., Stevens, C., Javaher, P., Scallet, H. F., Mohr, J., Biskup, S., Herkert, J. C., Pfundt, R., Mehta, L., Rekab, A., Elloumi, H. Z., Sanyoura, M., Maciel-Guerra, A. T. & Gil-da-Silva-Lopes, V. L. & 2 others, dos Santos, A. M. & Vieira, T. P., Dec-2024, In: European Journal of Human Genetics. 32, p. 1640–1646 7 p.

    Research output: Contribution to journal › Letter (Research letter) › Academic › peer-review

    Open Access
    File
    1 Citation (Scopus)
    87 Downloads (Pure)
View all 51 research outputs