Scott Topper
Color (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Biomedical Text Mining and Ontologies
Most-Cited Works
- → Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria(2017)739 cited
- → Genomic data in the All of Us Research Program(2024)646 cited
- → Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria(2022)488 cited
- → A dynamic model of proteome changes reveals new roles for transcript alteration in yeast(2011)296 cited
- → Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup(2023)266 cited
- → Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation(2017)239 cited
- → Sources of discordance among germ-line variant classifications in ClinVar(2017)122 cited
- → Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect(2015)112 cited
- → Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines(2019)106 cited
- → Exome sequencing and the genetics of intellectual disability(2011)78 cited