Steven M. Harrison

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 821 citations

Genetics, Genetic Epidemiology, Human Polymorphism +19

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 571 citations · Full text

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 565 citations · Full text

Data Classification, Classification Method, Engineering +12

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T. Miller, Kristy Lee, Wendy K. Chung et al. · Genetics in Medicine · 2021 · 541 citations · Full text

Secondary Findings, Acmg Sf, Next-generation Sequencing +9

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