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Dive into the research topics where Libe Gradstein 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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The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population
Shalom, S., Gradstein, L., Pras, E., Valensi, J., Birk, O. S., Blumenfeld, A., Eilat, A., Macarov, M., Poleg, T., Cremers, F. P. M., Roosing, S., Panneman, D. M., Hollander, N., Goldenberg-Cohen, N., Yahalom, C., Banin, E., Ben-Yosef, T. & Sharon, D., 1 Apr 2026, In: Investigative Ophthalmology and Visual Science. 67, 4, 24.Research output: Contribution to journal › Article › peer-review
Open Access -
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion
Poleg, T., Proskorovski-Ohayon, R., Dolgin, V., Hadar, N., Safran, A., Agam, N., Jean, M. M., Freund, O., Gradstein, L., Shelef, I., Sadaka, Y. & Birk, O. S., 1 Mar 2025, In: Clinical Genetics. 107, 3, p. 348-353 6 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Beryozkin, A., Sher, I., Ehrenberg, M., Zur, D., Newman, H., Gradstein, L., Simaan, F., Rotenstreich, Y., Goldenberg-Cohen, N., Bahar, I., Blumenfeld, A., Rivera, A., Rosin, B., Deitch-Harel, I., Perlman, I., Mechoulam, H., Chowers, I., Leibu, R., Ben-Yosef, T. & Pras, E. & 3 others, , 1 Feb 2024, In: Investigative Ophthalmology and Visual Science. 65, 2, 39.Research output: Contribution to journal › Review article › peer-review
Open Access5 Scopus citations -
Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families
Dinur, A. B., Buchbut, O., Gradstein, L., Elsana, B., Freund, O., Birk, O. S. & Tsumi, E., 1 Jan 2024, In: Rambam Maimonides Medical Journal. 15, 1, e0005.Research output: Contribution to journal › Article › peer-review
Open Access -
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
Shalom, S., Ben-Yosef, T., Sher, I., Zag, A., Rotenstreich, Y., Poleg, T., Birk, O. S., Gradstein, L., Ehrenberg, M., Deitch, I., Mezer, E., Hecht, I., Pras, E., Ramon, D., Khateb, S., Zur, D., Newman, H., Kharouba, R., Goldenberg-Cohen, N. & Leibu, R. & 4 others, , 18 Jul 2024, In: JAMA Ophthalmology. 142, 7, p. 609-616 8 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
De-novo “germline second hit” loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia
Gombosh, M., Yogev, Y., Hadar, N., Proskorovski-Ohayon, R., Aharoni, S., Gradstein, L. & Birk, O. S., 1 Nov 2023, In: Clinical Genetics. 104, 5, p. 571-576 6 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Wormser, O., Perez, Y., Dolgin, V., Kamali, B., Tangeman, J. A., Gradstein, L., Yogev, Y., Hadar, N., Freund, O., Drabkin, M., Halperin, D., Irron, I., Grajales-Esquivel, E., Del Rio-Tsonis, K., Birnbaum, R. Y., Akler, G. & Birk, O. S., 1 Dec 2023, In: npj Genomic Medicine. 8, 1, 22.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Novel COL9A1 mutation causes autosomal recessive isolated high myopia
Freund, O., Wormser, O., Perez, Y., Gradstein, L. & Birk, O., 11 May 2023, In: European Journal of Human Genetics. 31, p. 110-111 2 p.Research output: Contribution to journal › Meeting Abstract › peer-review
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Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation
Freund, O., Elsana, B., Agam, N., Jean, M. M., Safran, A., Poleg, T., Roguin, N., Gradstein, L., Tsumi, E. & Birk, O. S., 1 Nov 2023, In: American Journal of Medical Genetics, Part A. 191, 11, p. 2768-2774 7 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3
Halperin, D., Agam, N., Hallak, M., Feinstein, M., Drabkin, M., Yogev, Y., Wormser, O., Shavit, E., Gradstein, L., Shelef, I., Mijalovsky, A., Flusser, H. & Birk, O. S., 1 Aug 2022, In: Clinical Genetics. 102, 2, p. 123-129 7 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations