Christopher A. Cassa

机构：Brigham and Women's Hospital, Harvard University · ORCID：0000-0002-5771-9177

发表论文 92 篇 · 总被引 4222 次 · h-index 27

代表论文

• The missing link between genetic association and regulatory function (2022 · eLife · 被引 162)
• Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification (2024 · Nature Genetics · 被引 34)
• Systematic elucidation of genetic mechanisms underlying cholesterol uptake (2023 · Cell Genomics · 被引 16)
• DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features (2023 · Nature Communications · 被引 13)
• Extracting and calibrating evidence of variant pathogenicity from population biobank data (2025 · The American Journal of Human Genetics · 被引 9)
• Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria) (2022 · Genetics in Medicine · 被引 8)