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Rivka Sukenik Halevy

Professor

20042026

Research activity per year

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  • Deciphering DST-associated disorders: Biallelic variants affecting DST-b cause a congenital myopathy

    Jacob, M., Kölbel, H., Harrer, P., Kopajtich, R., Munot, P., Achleitner, M. T., Badmann, S., Brugger, M., Brunet, T., Bonne, G., Codina, M., Ebner, L., Eshraghi, P., Eyring, K., Farhat, A. S., Feichtinger, R. G., Graf, E., Marcé-Grau, A., Hahn, A. & Houlden, H. & 35 others, Karimiani, E. G., Manel, V., Mayerhanser, K., Nectoux, J., Nelson, I., Phadke, R., Prokisch, H., Sadeghian, S., Saparov, A., Schänzer, A., Schara-Schmidt, U., Schmidt, J., Schuler, R., Sewry, C., Shariati, G., Slanz, S., Smirnov, D., Sukenik-Halevy, R., Tajsharghi, H., Toosi, M. B., Trujillano, L., Weis, J., Wilson, L. C., Yaou, R. B., Zamani, M., Zech, M., Zschüntzsch, J., Kornak, U., Goméz-Andrés, D., Maroofian, R., Winkelmann, J., Roos, A., Distelmaier, F., Mayr, J. A. & Wagner, M., 1 Feb 2026, In: Brain. 149, 2, p. 653-667 15 p.

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

    Open Access

  • Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

    Ng, B. G., Eklund, E. A., Rosenfeld, J. A., Elias, A. F., Abu-El-Haija, A., Bris, C., Barth, M., Chae, J. H., Choi, M., Dubbs, H. A., Fratter, C., Foulds, N., Gamble, C., Gavrilova, R. H., Haven, J., Hoffman, T. L., Hunter, J. V., Larson, A., Lotze, T. E. & Magoulas, P. & 28 others, Magness, E. C., Bootin, D. M., Marsh, E. D., Nesbitt, V., Pastore, M. T., Poulton, J., Rahman, S., Scaglia, F., Murali, C., Posey, J., Rotenberg, J., Schmalz, B., Shinde, D. N., Powis, Z., Sukenik-Halevy, R., Truxal, K. V., Uster, T., Machado Bressan Wilke, M. V., Klee, E., Woo, H., Younkin, D., Zhao, J., Granadillo, J., Lalani, S., Chitayat, D., Chung, W. K., Freeze, H. H. & Okur, V., Jan 2025, In: Genetics in Medicine Open. 3, 103425.

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

    Open Access

  • Community-oriented, hospital level genetics: a new approach to improve access for underserved communities

    Gofin, Y., Tibi, F., Fanous, E., Ben-Shachar, S. & Sukenik-Halevy, R., Oct 2025, In: Pediatric Research. 98, 4, p. 1276-1282 7 p.

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

    Open Access

  • Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Cortese, A., Dohrn, M. F., Curro, R., Negri, S., Lassuthova, P., Pisciotta, C., Tozza, S., Al-Ajmi, A., Feng, C., Tomaselli, P. J., Fernandez-Eulate, G., Haddad, S., Laurà, M., Rossor, A. M., Vegezzi, E., Facchini, S., Sleigh, J. N., Rebelo, A., Beijer, D. & Raposo, J. & 61 others, Saporta, M., Lauerova, B., Pernice, H. F., Achenbach, P., Schöne, U., Alon, T., Deschauer, M., Cordts, I., Obermaier, C. D., Winter, N., Creigh, P. D., Sowden, J. E., Rehbein, T., Magri, S., Bertini, A., Saveri, P., Ripellino, P., Huang, J., Nadaj-Pakleza, A., Ross, A., Holt, J. K. L., Brennan, K. M., Sukenik-Halevy, R., Bizaoui, V., Parman, Y., Battaloglu, E., Cakar, A., Alrohaif, H., Hammans, S., Kumar, K. R., Kennerson, M. L., Kayserili, H., Amado, D. A., Hahn, K., Valentino, P., Cavalcanti, F., Gaetano, C., Taroni, F., Braathen, G. J., Houlden, H., Stojkovic, T., Peric, S., Bolino, A., Previtali, S. C., Yi-Chung, L., Başak, A. N., Hamed, S. A., Rojas-Garcia, R., Claeys, K. G., Marques, W., Sevilla, T., Schlotter-Weigel, B., Manganelli, F., Zhang, R., Herrmann, D. N., Scherer, S. S., Seeman, P., Pareyson, D., Reilly, M. M., Shy, M. E. & Züchner, S., 1 Oct 2025, In: Brain. 148, 10, p. 3737-3747 11 p.

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

    Open Access
    4 Scopus citations

  • Large-Scale Population Screening for BRCA1 and BRCA2 Ashkenazi Founder Mutations: Perspectives of Professionals Providing Oncogenetic Consultations

    Furman, Y., Gofin, Y., Litz Philipsborn, S., Hartmajer, S. & Sukenik-Halevy, R., Sep 2025, In: Breast Care. 20, 2, p. 111-117 7 p.

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

    Open Access
View all 72 Research outputs