Lynne A. Wolfe

机构：National Human Genome Research Institute · ORCID：0000-0001-7628-5741

发表论文 183 篇 · 总被引 7374 次 · h-index 48

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 127)
• 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)
• Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort (2024 · Molecular Genetics and Metabolism · 被引 20)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 9)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)