Emma Tudini

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson et al. · The American Journal of Human Genetics · 2024 · 68 citations · Full text

Genetic Analysis, Allelic Variant, Medicine +11

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Amanda B. Spurdle, Stephanie Greville‐Heygate, Antonis C. Antoniou et al. · Journal of Medical Genetics · 2019 · 54 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

<i>BRCA1</i> and <i>BRCA2</i> 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Leslie Burke, Jan Ševčı́k, Gaetana Gambino et al. · Human Mutation · 2018 · 27 citations · Full text