Gary Clark
机构:Texas Children's Hospital
发表论文 165 篇 · 总被引 7384 次 · h-index 44
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)
- The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing (2024 · The American Journal of Human Genetics · 被引 32)
- 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)
- De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 11)
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections (2023 · Genetics in Medicine · 被引 11)