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Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
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
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
Barnes-Kedar I, et al. Among authors: hartmajer s.
Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
Breast Cancer Res Treat. 2018.
PMID: 30014164
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Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Ludman MD, Philipsborn SL, Hartmajer S, Shwartzman NS, Reinstein E.
Ludman MD, et al. Among authors: hartmajer s.
Fam Cancer. 2022 Apr;21(2):121-123. doi: 10.1007/s10689-021-00255-z. Epub 2022 Feb 15.
Fam Cancer. 2022.
PMID: 35166990
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A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
Litz Philipsborn S, Hartmajer S, Shtorch Asor A, Vinovezky M, Regev M, Singer A, Reinstein E.
Litz Philipsborn S, et al. Among authors: hartmajer s.
Am J Med Genet A. 2021 May;185(5):1610-1613. doi: 10.1002/ajmg.a.62119. Epub 2021 Feb 15.
Am J Med Genet A. 2021.
PMID: 33590725
No abstract available.
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