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Stefan Barakat

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dr. Stefan Barakat

 https://orcid.org/0000-0003-1231-1562

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  • Seizures in SRRM2-related disorder and treatment response

    Fouz-Ruiz, D., Beltrán-Corbellini, Á., de Vries, B. B. A., Ousager, L. B., Iascone, M., Dosi, C., Delplancq, G., Stegmann, A., Barakat, T. S., van Bever, Y., van Slegenhorst, M., Sleutels, F., Gates, R., Bendl, C., Gil-Nagel, A., Cuinat, S. & Aledo-Serrano, Á., Nov 2026, In: European Journal of Paediatric Neurology. 65, p. 8-14 7 p.

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

  • Biallelic pathogenic variants in EXOSC3 mediate thrombotic microangiopathy of the kidney

    Walsh, P. R., Basu, U., Barakat, T. S., Beck, B. B., Bertini, E., Brocklebank, V., Corderio, N., Ćomić, J., Abazi-Emini, N., Fluss, J., George, A., Bülow, M., Gibson, B. G., Hambleton, S., Hoefele, J., Hunt, D., Ivanov, I., Johnson, S., Kotzaeridou, U. & Laštůvková, J. & 25 others, Lunn, A., Mallett, G., Pappworth, I., Philippou, H., Platzer, K., Robson, J., Šafka brožková, D., Smith-Jackson, K., Sinha, M. D., Thompson, G., Wood, K., Zanni, G., Prohászka, Z., Laubova, J., Aranka, J., Bojtár, Z., Antal-Konya, V., Bologa, C., Karava, V., Kamilari, T., Georgiadou, E., Tasic, V., Markova, P., Marchbank, K. J. & Kavanagh, D., Oct 2026, In: Kidney International. 110, 4, p. 1013-1021 9 p.

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

    Open Access
    File
    5 Downloads (Pure)

  • Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

    Shi, Y., Silva, A., Debuy, C., Ghosh, S., McConkey, H., Schot, R., Deng, R., Nikoncuk, A., van Slegtenhorst, M., Hoefsloot, L. H., van Ham, T. J., Simpson, B. N., Miller, D., Pillai, N. R., Holder-Espinasse, M., Almoguera, B., Blanco-Kelly, F., Clowes, V., Yoon, G. & Monteleone, B. & 39 others, Vasquez, J., Pérez de la Fuente, R., Bellido-Cuéllar, S., Barrios-Machain, U., Moreno-Sáez, Y., Steindl, K., Begemann, A., Rauch, A., Busa, T., Gorokhova, S., Lakhani, S., Grinspan, Z., Garde, A., Mau Them, F. T., Bruel, A. L., Delanne, J., Safraou, H., Colin, E., Parikh, A. S., Slavotinek, A., Devine, P., Shillington, A., Sorlin, A., Menzies, D., Mehta, L., Close, C., Heid, C., Ahmed, S. A., Gomes, A., Bird, L. M., Aref-Eshghi, E., Cardona-Londoño, K. J., Arold, S. T., Li, J. M., Hsieh, T. C., Kleefstra, T., Lanko, K., Sadikovic, B. & Barakat, T. S., Sept 2026, In: Genetics in Medicine. 28, 9, 102637.

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

    Open Access
    File
    7 Downloads (Pure)

  • Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

    Berges, C., Sauvestre, C., Naudion, S., Delorme, C. V., Smol, T., Rama, M., Moortgat, S., Maystadt, I., Kersseboom, R., Wilke, M., Barakat, S., Vial, Y., Perrin, L., Passemard, S., Ahmad, F., Umair, M., Haack, T., Grimmel, M., Kuechler, A. & Slavotinek, A. & 11 others, Devine, P., Hodoglugil, U., Zafar, F., Afzal, E., Dudding-Byth, T., Jouret, G., Herissant, L., Efthymiou, S., Houlden, H., Legendre, M. & Michaud, V., Sept 2026, In: Clinical Genetics. 110, 3, p. 379-388 10 p.

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

    Open Access
    File
    7 Downloads (Pure)

  • Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

    van Oirsouw, A. S. E., Hsieh, T. C., Koetsier, M., Alali, A., Albuainain, F., Bacchelli, E., Barakat, T. S., Capri, Y., Chantot-Bastaraud, S., Capra, V., Carere, D. A., Clement, E., Elkhateeb, N., Franchi, M., Li, J. M., Matthews, N., McNiven, V., Mehta, S. G., Nakamura, M. & Phornphutkul, C. & 11 others, Revencu, N., Scala, M., Shallow, N., Stefanich, J., Viggiano, M., Visconti, P., Walker, S., Zara, F., Alders, M., Koeleman, B. P. C. & Oegema, R., Aug 2026, In: Clinical Genetics. 110, 2, p. 150-164 15 p.

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

    Open Access
    File
    13 Downloads (Pure)
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