Anna Tenés

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

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Genetics, Oncology +13

Screening of <i>BRCA1/2</i> deep intronic regions by targeted gene sequencing identifies the first germline <i>BRCA1</i> variant causing pseudoexon activation in a patient with breast/ovarian cancer

Gemma Montalban, Sandra Bonache, Alejandro Moles‐Fernández et al. · Journal of Medical Genetics · 2018 · 43 citations

Life Sciences, Genetics, Molecular Genetics +17

About 1% of the breast and ovarian Spanish families testing negative for <i>BRCA1</i> and <i>BRCA2</i> are carriers of <i>RAD51D</i> pathogenic variants

Sara Gutiérrez‐Enríquez, Sandra Bonache, Gorka Ruíz de Garibay et al. · International Journal of Cancer · 2013 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

Alejandro Moles‐Fernández, Joanna Domènech-Vivó, Anna Tenés et al. · Cancers · 2021 · 31 citations · Full text

Life Sciences, Genetics, Molecular Biology +17