Joseph A. Marsh

机构：Institute of Genetics and Cancer, University of Edinburgh · ORCID：0000-0003-4132-0628

发表论文 197 篇 · 总被引 9140 次 · h-index 50

代表论文

Variant effect predictor correlation with functional assays is reflective of clinical classification performance (2025 · Genome biology · 被引 36)
Leveraging protein structural information to improve variant effect prediction (2025 · Current Opinion in Structural Biology · 被引 29)
Guidelines for releasing a variant effect predictor (2025 · Genome biology · 被引 28)
Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins (2025 · PLoS Computational Biology · 被引 13)
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes (2025 · Nature Communications · 被引 12)
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series (2025 · The Lancet Neurology · 被引 12)