Scott Topper

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 471 citations · Full text

A dynamic model of proteome changes reveals new roles for transcript alteration in yeast

M Violet Lee, Scott Topper, Shane L. Hubler et al. · Molecular Systems Biology · 2011 · 294 citations · Full text

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Yuya Kobayashi, Shan Yang, Keith Nykamp et al. · Genome Medicine · 2017 · 235 citations · Full text

Sources of discordance among germ-line variant classifications in ClinVar

Shan Yang, Stephen E. Lincoln, Yuya Kobayashi et al. · Genetics in Medicine · 2017 · 117 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +20