S. Harrison

发表论文 75 篇 · 总被引 6997 次 · h-index 34

代表论文

• 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) (2021 · Genetics in Medicine · 被引 452)
• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022 · American Journal of Human Genetics · 被引 430)
• 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 367)
• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (2021 · Genetics in Medicine · 被引 273)
• Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. (2023 · American Journal of Human Genetics · 被引 271)
• 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 245)