Katrina M. Dipple

机构：University of Washington, Brotman Baty Institute

发表论文 160 篇 · 总被引 6231 次 · h-index 40

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 41)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition (2025 · Nature Genetics · 被引 40)
• SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns (2025 · The American Journal of Human Genetics · 被引 20)
• 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 13)
• Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders (2025 · medRxiv · 被引 13)