Hsiao‐Mei Lu

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 462 citations · Full text

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

Wenbo Mu, Hsiao‐Mei Lu, Jefferey Chen et al. · Journal of Molecular Diagnostics · 2016 · 184 citations · Full text

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

Hsiao‐Mei Lu, Shuwei Li, Mary Helen Black et al. · JAMA Oncology · 2018 · 176 citations

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

Holly LaDuca, Kelly D. Farwell, Huy Gia Vuong et al. · PLoS ONE · 2017 · 111 citations · Full text

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

Yuan Tian, Tina Pesaran, Adam Chamberlin et al. · Scientific Reports · 2019 · 109 citations · Full text