Research output per year
Research output per year
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Dive into the research topics where Mordechai Shohat is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature
Elron, E., Shohat, M., Basel-Salmon, L., Kahana, S., Matar, R., Klein, K., Agmon-Fishman, I., Gurevitch, M., Berger, R., Brabbing-Goldstein, D., Levy, M. & Maya, I., Apr 2025, In: American Journal of Medical Genetics, Part A. 197, 4, e63946.Research output: Contribution to journal › Article › peer-review
Open Access -
A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis
Bratman Morag, S., Itzkovich, C., Kurolap, A., Shohat, M., Durr, A., de Sainte Agathe, J. M., Bertrand, J., Koifman, A., Alkelai, A., Shuldiner, A. R., Mory, A., Harel, T., Mor-Shaked, H., Shalata, A., Paperna, T., Baris Feldman, H., Kakun, R. R., Kornitzer, D., Salzberg, A. & Weiss, K., Nov 2025, In: Genetics in Medicine. 27, 11, 101569.Research output: Contribution to journal › Article › peer-review
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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T
Foley, A. R., Bolduc, V., Guirguis, F., Donkervoort, S., Hu, Y., Orbach, R., Mccarty, R. M., Sarathy, A., Norato, G., Cummings, B. B., Lek, M., Sarkozy, A., Butterfield, R. J., Kirschner, J., Nascimento, A., Natera-De Benito, D., Quijano-Roy, S., Stojkovic, T., Merlini, L. & Comi, G. & 49 others, , 1 Sep 2025, In: Brain. 148, 9, p. 3215-3227 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 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, , Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 132.Research output: Contribution to journal › Article › peer-review
Open Access -
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Levy, M., Lifshitz, S., Goldenberg-Fumanov, M., Bazak, L., Goldstein, R. J., Hamiel, U., Berger, R., Lipitz, S., Maya, I. & Shohat, M., Mar 2025, In: Prenatal Diagnosis. 45, 3, p. 276-286 11 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations