Irene López‐Perolio

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 89 citations · Full text

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

Naturally occurring <i>BRCA2</i> alternative mRNA splicing events in clinically relevant samples

James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang et al. · Journal of Medical Genetics · 2016 · 52 citations

Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness

Vivek Patel, Evan L. Busch, Tara M. Friebel et al. · Cancer Research · 2019 · 50 citations · Full text

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Rita D. Brandão, Klaas Mensaert, Irene López‐Perolio et al. · International Journal of Cancer · 2019 · 40 citations · Full text

Impact Rna Splicing, Somatic Variant, Breast/ovarian Cancer Susceptibility +14