D.N. Cooper

机构：University of Wales Institute Cardiff, Cardiff University · ORCID：0000-0002-8943-8484

发表论文 1624 篇 · 总被引 102434 次 · h-index 120

代表论文

• Critical assessment of missense variant effect predictors on disease-relevant variant data (2025 · Human Genetics · 被引 24)
• SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges (2025 · The American Journal of Human Genetics · 被引 9)
• Regional and aging-specific cellular architecture of non-human primate brains (2025 · Genome Medicine · 被引 9)
• Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data (2025 · The American Journal of Human Genetics · 被引 8)
• Expanding the utility of variant effect predictions with phenotype-specific models (2025 · Nature Communications · 被引 6)
• SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis (2025 · Familial Cancer · 被引 3)