Devon E. Bonner

机构：Stanford Health Care, Stanford Medicine, Stanford University · ORCID：0000-0002-8771-0886

发表论文 128 篇 · 总被引 3104 次 · h-index 30

代表论文

• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies (2025 · The American Journal of Human Genetics · 被引 19)
• GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 17)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 13)
• Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder (2025 · medRxiv · 被引 11)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 6)
• Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association (2026 · Genetics in Medicine · 被引 4)