Kim C. Worley

机构：Baylor College of Medicine, Baylor Genetics · ORCID：0000-0002-0282-1000

发表论文 307 篇 · 总被引 94682 次 · h-index 77

代表论文

• Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement (2024 · Nature Communications · 被引 28)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 12)
• Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders (2025 · EMBO Molecular Medicine · 被引 9)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 6)
• Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities (2024 · Genetics in Medicine · 被引 5)
• The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics (2025 · The American Journal of Human Genetics · 被引 3)