Steven M. Harrison

机构：Broad Institute, Ambry Genetics (United States) · ORCID：0000-0002-9614-9111

发表论文 135 篇 · 总被引 11882 次 · h-index 43

代表论文

• Genomic data in the All of Us Research Program (2024 · Nature · 被引 843)
• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022 · The American Journal of Human Genetics · 被引 598)
• ACMG SF v3.2 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) (2023 · Genetics in Medicine · 被引 453)
• Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023 · The American Journal of Human Genetics · 被引 355)
• ACMG SF v3.1 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) (2022 · Genetics in Medicine · 被引 295)
• Recommendations for clinical interpretation of variants found in non-coding regions of the genome (2022 · Genome Medicine · 被引 276)