Elizabeth L. Fieg

机构：Brigham and Women's Hospital, Baylor Genetics · ORCID：0000-0001-9422-2373

发表论文 74 篇 · 总被引 1432 次 · h-index 23

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)
• Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG) (2025 · Clinical Chemistry · 被引 18)
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• KMT2B -related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. (2025 · PubMed · 被引 9)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)