Thomas Cassini

机构：Vanderbilt University, Vanderbilt University Medical Center

发表论文 55 篇 · 总被引 440 次 · h-index 12

代表论文

• Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network (2025 · JAMA Network Open · 被引 15)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder (2025 · medRxiv · 被引 10)
• The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series (2025 · Annals of Neurology · 被引 8)
• Racial and Ethnic Disparities in Antihypertensive Medication Prescribing Patterns and Effectiveness (2024 · Clinical Pharmacology & Therapeutics · 被引 7)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)