Garrett Michael Frampton

This study shows that U2AF1 mutations can rescue exon skipping caused by KRAS mutations in lung adenocarcinoma, revealing a dynamic interplay between splicing factor and oncogenic mutations.

The paper identifies reversion mutations in homologous recombination genes across cancers, showing they restore DNA repair and confer PARP inhibitor resistance through specific structural alterations.

The paper develops machine learning models to predict pathogenicity of BRCA1 and BRCA2 variants using cancer genomic profiles, improving classification of variants of uncertain significance.

The paper identifies LINE-1 retrotransposition as a cause of MET exon 14 skipping in cancer, leading to actionable mutations.

The paper identifies cancer-specific driver gene mutations associated with immunotherapy outcomes in a multi-cancer cohort of 1,525 patients.