Vanessa Lattimore

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

Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;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

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

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

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 · 32 citations · Full text