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Annick Raas-Rothschild

Professor

Former affiliation
1988 …2026

Research activity per year

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Collaborations and top research areas from the last five years

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  • Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders

    Chorin, O., Bolkier, Y., Katz, U., Salem, Y., Anikster, Y., Shalva, N., Barel, O., Giladi, M., Semo-Oz, R., Ben-Ruby, D., Lev-Hochberg, S., Ityel, H., Greenbaum, L., Vivante, A., Rein-Rothschild, A. & Pode-Shakked, B., Aug 2026, In: Genes. 17, 8, 852.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • LONP1 Variants Are Associated With Clinically Diverse Phenotypes

    Undiagnosed Diseases Network, Mar 2026, In: Clinical Genetics. 109, 3, p. 437-457 21 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

    Chorin, O., Greenbaum, L., Lev-Hochberg, S., Feinstein-Goren, N., Eliyahu, A., Shani, H., Pras, E., Weissbach, T., Bolkier, Y., Heimer, G., Lev, D., Michelson, M., Regev, M., Josefsberg, S., Batzir, N. A., Shalata, A., Spiegel, R., Segel, R., Lobel, O. & Abu-Libdeh, B. & 5 others, Shohat, M., Frydman, M., Hady-Cohen, R., Pode-Shakked, B. & Rein-Rothschild, A., Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 132.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • LONP1 Variants Are Associated With Clinically Diverse Phenotypes

    Undiagnosed Diseases Network, 2025, (Accepted/In press) In: Clinical Genetics.

    Research output: Contribution to journalArticlepeer-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. K., Fitzgerald, M. P., Kraemer, D., Prada, C. E., Tenney, J., Jayakar, P., Redon, S., Lefranc, J., 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., 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., Nov 2025, In: Nature Genetics. 57, 11, p. 2691-2704 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations