Raquel Behar

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 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Molecular Biology, Molecular Genetics +17

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Irene López‐Perolio, Raphaël Leman, Raquel Behar et al. · Journal of Medical Genetics · 2019 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The <i>BRCA2</i> c.68-7T &gt; A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Mara Colombo, Irene López‐Perolio, Huong Meeks et al. · Human Mutation · 2018 · 20 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Logan C. Walker, Vanessa Lattimore, Anders Kvist et al. · Frontiers in Genetics · 2019 · 18 citations · Full text

Life Sciences, Genetics, Molecular Biology +17