Cynthia J. Tifft

机构：National Institutes of Health, Government of the United States of America, National Human Genome Research Institute · ORCID：0000-0002-3931-1207

发表论文 319 篇 · 总被引 12476 次 · h-index 55

代表论文

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial (2025 · Nature Medicine · 被引 8)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association (2026 · Genetics in Medicine · 被引 3)
• AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial (2025 · medRxiv · 被引 3)
• AAV9 Gene Therapy in Type II GM1 Gangliosidosis — A Phase 1–2 Trial (2026 · New England Journal of Medicine · 被引 2)