D. MacArthur

发表论文 267 篇 · 总被引 94114 次 · h-index 96

代表论文

Transcriptome variation in human tissues revealed by long-read sequencing (2021 · Nature · 被引 262)
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes (2022 · Cell Genomics · 被引 260)
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022 · bioRxiv · 被引 260)
From variant to function in human disease genetics (2021 · Science · 被引 151)
Mitochondrial DNA variation across 56,434 individuals in gnomAD (2021 · bioRxiv · 被引 123)
Single-cell genomics meets human genetics (2023 · Nature reviews genetics · 被引 105)