Ghayda Mirzaa

机构：University of Washington, Norcliffe Foundation, Brotman Baty Institute

发表论文 203 篇 · 总被引 8960 次 · h-index 52

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)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)
• Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability (2024 · Proceedings of the National Academy of Sciences · 被引 6)
• Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition (2025 · Nature Communications · 被引 5)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)