Susan Walker

机构：Stony Brook School · ORCID：0000-0002-5016-6426

发表论文 136 篇 · 总被引 10922 次 · h-index 46

代表论文

• Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme (2024 · Nature Medicine · 被引 182)
• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure (2023 · Genetics in Medicine · 被引 21)
• Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice (2024 · Journal of Clinical Oncology · 被引 17)
• Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue (2023 · European Journal of Human Genetics · 被引 11)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)