Christina Anne Austin-Tse

机构：Broad Institute, Harvard University, Massachusetts General Hospital · ORCID：0000-0001-6492-6716

发表论文 99 篇 · 总被引 4227 次 · h-index 26

代表论文

• Genomic data in the All of Us Research Program (2024 · Nature · 被引 847)
• Genome Sequencing for Diagnosing Rare Diseases (2024 · New England Journal of Medicine · 被引 205)
• The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources (2022 · Genetics in Medicine · 被引 170)
• Beyond the exome: What’s next in diagnostic testing for Mendelian conditions (2023 · The American Journal of Human Genetics · 被引 129)
• Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (2023 · Nature Medicine · 被引 68)
• Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies (2023 · The American Journal of Human Genetics · 被引 58)