Gemma Montalban

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer

Cristina Cruz, Marta Castroviejo‐Bermejo, Sara Gutiérrez‐Enríquez et al. · Annals of Oncology · 2018 · 410 citations · Full text

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

Sandra Bonache, I. Esteban, Alejandro Moles‐Fernández et al. · Journal of Cancer Research and Clinical Oncology · 2018 · 65 citations · Full text

Breast Oncology, Cancer Risk, Multigene Panel +8

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Alejandro Moles‐Fernández, Laura Duran-Lozano, Gemma Montalban et al. · Frontiers in Genetics · 2018 · 64 citations · Full text