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Dive into the research topics where Zamir Shorer 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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ZNF142 mutation causes sex-dependent neurologic disorder
Proskorovski-Ohayon, R., Eskin-Schwartz, M., Shorer, Z., Kadir, R., Halperin, D., Drabkin, M., Yogev, Y., Aharoni, S., Hadar, N., Cohen, H., Eremenko, E., Perez, Y. & Birk, O. S., 1 Jun 2024, In: Journal of Medical Genetics. 61, 6, p. 566-577 12 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy
Joss, I., Bachner, Y. G., Shorer, T., Shorer, Z. & O’Rourke, N., 1 Oct 2023, In: Healthcare (Switzerland). 11, 19, 2662.Research output: Contribution to journal › Article › peer-review
Open Access -
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
Yogev, Y., Shorer, Z., Koifman, A., Wormser, O., Drabkin, M., Halperin, D., Dolgin, V., Proskorovski-Ohayon, R., Hadar, N., Davidov, G., Nudelman, H., Zarivach, R., Shelef, I., Perez, Y. & Birk, O. S., 14 Feb 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 7, e2217831120.Research output: Contribution to journal › Article › peer-review
Open Access44 Scopus citations -
Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy
Edelstein, O. E., Shorer, T., Shorer, Z. & Bachner, Y. G., 1 Sep 2022, In: International Journal of Environmental Research and Public Health. 19, 18, 11595.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
PSMC1 variant causes a novel neurological syndrome
Aharoni, S., Proskorovski-Ohayon, R., Krishnan, R. K., Yogev, Y., Wormser, O., Hadar, N., Bakhrat, A., Alshafee, I., Gombosh, M., Agam, N., Gradstein, L., Shorer, Z., Zarivach, R., Eskin-Schwartz, M., Abdu, U. & Birk, O. S., 1 Oct 2022, In: Clinical Genetics. 102, 4, p. 324-332 9 p.Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations -
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome
Halperin, D., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Shorer, Z., Gradstein, L., Shelef, I., Flusser, H. & Birk, O. S., 1 Jun 2020, In: American Journal of Medical Genetics, Part A. 182, 6, p. 1506-1512 7 p.Research output: Contribution to journal › Article › peer-review
13 Scopus citations -
A novel human mutation associates with increased pain threshold and impaired thermoregulation
Majdalani, P., Biton, S., Pinsk, V., Shorer, Z., Broides, A., Defrin, R., Zarivach, R., Landau, D., Rudich, Z. & Parvari, R., Jul 2019, In: European Journal of Human Genetics. 27, p. 892-893 2 p.Research output: Contribution to journal › Meeting Abstract › peer-review
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Correlates of quality of life in mothers of children with diagnosed epilepsy
Edelstein, O. E., Shorer, T., Shorer, Z. & Bachner, Y. G., 1 Apr 2019, In: Epilepsy and Behavior. 93, p. 80-86 7 p.Research output: Contribution to journal › Article › peer-review
15 Scopus citations -
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
Halperin, D., Kadir, R., Perez, Y., Drabkin, M., Yogev, Y., Wormser, O., Berman, E. M., Eremenko, E., Rotblat, B., Shorer, Z., Gradstein, L., Shelef, I., Birk, R., Abdu, U., Flusser, H. & Birk, O. S., 1 Mar 2019, In: Journal of Medical Genetics. 56, 3, p. 139-148 10 p.Research output: Contribution to journal › Article › peer-review
39 Scopus citations -
SEC31A mutation affects ER homeostasis, causing neurological syndrome
Halperin, D., Kadir, R., Perez, Y., Drabkin, M., Yogev, Y., Wormser, O., Berman, E., Eremenko, E., Rotblat, B., Shorer, Z., Gradstein, L., Shelef, I., Birk, R., Abdu, U., Flusser, H. & Birk, O. S., Oct 2019, In: European Journal of Human Genetics. 27, p. 1524-1524Research output: Contribution to journal › Meeting Abstract › peer-review