Claire L. Shovlin

机构：Imperial College Healthcare NHS Trust, Lung Institute, NIHR Imperial Biomedical Research Centre, Imperial College London · ORCID：0000-0001-9007-5775

发表论文 214 篇 · 总被引 9132 次 · h-index 43

代表论文

• Hereditary haemorrhagic telangiectasia (2025 · Nature Reviews Disease Primers · 被引 53)
• Rare disease gene association discovery in the 100,000 Genomes Project (2025 · Nature · 被引 24)
• Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT (2024 · Blood · 被引 19)
• Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 (2024 · Human Mutation · 被引 10)
• Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction (2023 · Journal of Clinical Medicine · 被引 10)
• When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants (2025 · The American Journal of Human Genetics · 被引 7)