Brendan Lee

机构：Baylor College of Medicine, Texas Children's Hospital, Baylor Genetics · ORCID：0000-0001-8573-4211

发表论文 515 篇 · 总被引 22756 次 · h-index 80

代表论文

• AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders (2024 · NEJM AI · 被引 52)
• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 41)
• The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing (2024 · The American Journal of Human Genetics · 被引 32)
• Clinical validation of RNA sequencing for Mendelian disorder diagnostics (2025 · The American Journal of Human Genetics · 被引 27)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 14)
• Research for all: building a diverse researcher community for the All of Us Research Program (2024 · Journal of the American Medical Informatics Association · 被引 12)