Grace E. VanNoy
机构：Broad Institute, Ambry Genetics (United States) · ORCID：0000-0003-1257-9702
发表论文 73 篇 · 总被引 2406 次 · h-index 23
代表论文
- Genome Sequencing for Diagnosing Rare Diseases (2024 · New England Journal of Medicine · 被引 195)
- De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
- Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection (2025 · The American Journal of Human Genetics · 被引 44)
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci (2025 · Genome Medicine · 被引 18)
- GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 15)
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci (2024 · medRxiv · 被引 7)