Danny E. Miller

机构：Seattle Children's Hospital, University of Washington, University of Washington Medical Center, Seattle Children's Hospital, Brotman Baty Institute, University of Washington Applied Physics Laboratory

发表论文 168 篇 · 总被引 8296 次 · h-index 33

代表论文

• GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 15)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 6)
• Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells (2025 · Nucleic Acids Research · 被引 6)
• Using the linear references from the pangenome to discover missing autism variants (2026 · Nature Communications · 被引 3)
• Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro (2026 · Nature Communications · 被引 3)