Christopher R. Boustred

机构：Genomics England · ORCID：0000-0001-7739-9302

发表论文 81 篇 · 总被引 4061 次 · h-index 37

代表论文

• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. (2021 · UCL Discovery (University College London) · 被引 325)
• Substitution mutational signatures in whole-genome–sequenced cancers in the UK population (2022 · Science · 被引 302)
• A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage (2021 · Nature Cancer · 被引 168)
• Signatures of TOP1 transcription-associated mutagenesis in cancer and germline (2022 · Nature · 被引 88)
• Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution (2021 · The American Journal of Human Genetics · 被引 85)
• Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features (2022 · Nature Genetics · 被引 81)