Christine M. Eng

机构：Baylor Genetics

发表论文 273 篇 · 总被引 24566 次 · h-index 70

代表论文

• AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders (2024 · NEJM AI · 被引 48)
• 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)
• The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing (2024 · The American Journal of Human Genetics · 被引 31)
• Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability (2024 · The American Journal of Human Genetics · 被引 27)
• Clinical validation of RNA sequencing for Mendelian disorder diagnostics (2025 · The American Journal of Human Genetics · 被引 25)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)