Saturation genome editing-based clinical classification of BRCA2 variants
2025 · Nature · 33 citations
https://doi.org/10.1038/s41586-024-08349-1
M
Maria Zanti
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Maria Zanti is an academic researcher from Cyprus Institute of Neurology and Genetics. The author has contributed to research in topics: BRCA gene mutations in cancer & Genomics and Rare Diseases & SARS-CoV-2 and COVID-19 Research. The author has an h-index of 8, co-authored 25 publications.
ORCID: 0000-0002-0136-9921Papers by this author
worksRapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies
2018 · Human Gene Therapy Methods · 24 citations
https://doi.org/10.1089/hgtb.2017.190
Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels
2021 · BMC Bioinformatics · 11 citations
https://doi.org/10.1186/s12859-021-04144-1
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
2024 · Breast Cancer Research · 11 citations
https://doi.org/10.1186/s13058-024-01947-x
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
2023 · Human Mutation · 6 citations
https://doi.org/10.1155/2023/9961341
In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches
2021 · BMC Genomic Data · 4 citations
https://doi.org/10.1186/s12863-021-01007-9
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