Adeline Vanderver

机构：Children's Hospital of Philadelphia, California University of Pennsylvania

发表论文 389 篇 · 总被引 15162 次 · h-index 60

代表论文

• Mondo: integrating disease terminology across communities (2025 · Genetics · 被引 20)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes (2025 · medRxiv · 被引 5)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome (2025 · Journal of Child Neurology · 被引 4)
• Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease (2025 · Neurology Genetics · 被引 3)