Associated Papers
Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O et al.
Haematologica, 2025
The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.
Witham M et al.
Nar Molecular Medicine, 2024
Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.
Bernstein-Molho R et al.
Cancer, 2024
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
DNA double-strand break genetic variants in patients with premature ovarian insufficiency.
Ding X et al.
Journal of Ovarian Research, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_only
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Lieberman S et al.
Breast Cancer Research and Treatment, 2022
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Ludman MD et al.
Familial Cancer, 2022
A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
Pan Y et al.
Molecular Genetics and Genomics : Mgg, 2021
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O et al.
Haematologica, 2020
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
Bernstein-Molho R et al.
Breast Cancer Research and Treatment, 2020
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
França MM et al.
Journal of the Endocrine Society, 2020
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
31191615 (PubMed )
Supplement: Data_Sheet_1.PDF
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 et al.
Breast Cancer Research and Treatment, 2018
Essential Role of BRCA2 in Ovarian Development and Function.
Weinberg-Shukron A et al.
The New England Journal of Medicine, 2018
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