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Page 1
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A, Kedar I, Mattar S, Mahamid A, Basel-Salmon L, Farage Barhom S, Naftaly Nathan S, Magal N, Azulay N, Levy Zalcberg M, Chen-Shtoyerman R, Segol O, Seri M, Reznick Levi G, Shkedi-Rafid S, Vinkler C, Netzer I, Hagari Bechar O, Chamma L, Liberman S, Goldberg Y. Abu Shtaya A, et al. Among authors: vinkler c. Cancers (Basel). 2023 Dec 24;16(1):94. doi: 10.3390/cancers16010094. Cancers (Basel). 2023. PMID: 38201524 Free PMC article.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Among authors: vinkler c. Hum Genet. 2019 Oct;138(10):1145-1153. doi: 10.1007/s00439-019-02048-y. Epub 2019 Jul 18. Hum Genet. 2019. PMID: 31321490 Review.
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y. Bernstein-Molho R, et al. Among authors: vinkler c. Breast Cancer Res Treat. 2019 Nov;178(1):231-237. doi: 10.1007/s10549-019-05379-6. Epub 2019 Jul 31. Breast Cancer Res Treat. 2019. PMID: 31368036
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
Bernstein-Molho R, Friedman E, Kedar I, Laitman Y, Allweis TM, Gal-Yam EN, Feldman HB, Grinshpun A, Halpern N, Hartmajer S, Kadouri L, Katz LH, Kaufman B, Laish I, Levanon K, Philipsborn SL, Ludman M, Moran G, Peretz T, Reinstein E, Levi GR, Safra T, Shkedi S, Vinkler C, Levy Z, Goldberg Y. Bernstein-Molho R, et al. Among authors: vinkler c. Breast Cancer Res Treat. 2020 Jun;181(2):445-453. doi: 10.1007/s10549-020-05633-2. Epub 2020 Apr 18. Breast Cancer Res Treat. 2020. PMID: 32303989
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: vinkler c. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Goldberg Y, et al. Among authors: vinkler c. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 3. Hum Mutat. 2021. PMID: 33600035
The genetic landscape of Lynch syndrome in the Israeli population.
Shtaya AA, Nathan SN, Kedar I, Friedman E, Half E, Lidzbarsky G, Levi GR, Laish I, Katz L, Bazak L, Peretz LP, Salmon LB, Douiev L, Kalis ML, Schechter M, Barzily-Rokni M, Samra NN, Abu-Freha N, Hagari-Bechar O, Segol O, Mattar S, Barhom SF, Mordechai S, Rafid SS, Shalev SA, Peretz-Yablonski T, Levi Z, Bruchim R, Vinkler C, Bernstein-Molho R, Lieberman S, Goldberg Y. Shtaya AA, et al. Among authors: vinkler c. Fam Cancer. 2024 Nov 15;24(1):6. doi: 10.1007/s10689-024-00432-w. Fam Cancer. 2024. PMID: 39546165 Free PMC article.
43 results