Susan Korrick

机构：Brigham and Women's Hospital, Harvard University

发表论文 288 篇 · 总被引 8355 次 · h-index 51

代表论文

• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 39)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 10)
• Gestational vitamin D concentration and child cognitive development: a longitudinal cohort study in the Environmental influences on Child Health Outcomes Program (2025 · American Journal of Clinical Nutrition · 被引 9)
• Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability (2024 · Proceedings of the National Academy of Sciences · 被引 6)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)