Ryan L. Collins

发表论文 88 篇 · 总被引 20511 次 · h-index 42

代表论文

• A genomic mutational constraint map using variation in 76,156 human genomes (2023 · Nature · 被引 1339)
• Genome-wide enhancer maps link risk variants to disease genes (2021 · Nature · 被引 560)
• Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022 · Nature Genetics · 被引 534)
• A cross-disorder dosage sensitivity map of the human genome (2021 · medRxiv · 被引 320)
• A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022 · bioRxiv · 被引 260)
• GATK-gCNV enables discovery of rare copy number variants from exome sequencing data (2023 · Nature Genetics · 被引 97)