Sandra Bonache
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
BRCA gene mutations in cancer, DNA Repair Mechanisms, CRISPR and Genetic Engineering, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genomics and Rare Diseases
Most-Cited Works
- → RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer(2018)417 cited
- → A RAD 51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation(2018)266 cited
- → Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification(2019)150 cited
- → Changes in the Expression Profile of the Meiosis‐Involved Mismatch Repair Genes in Impaired Human Spermatogenesis(2010)124 cited
- → Epigenetic Disruption of the PIWI Pathway in Human Spermatogenic Disorders(2012)103 cited
- → Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium(2014)87 cited
- → Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings(2018)65 cited
- → Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?(2018)64 cited
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men(2012)53 cited