D. Stewart

发表论文 141 篇 · 总被引 6653 次 · h-index 43

代表论文

• ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) (2023 · Genetics in Medicine · 被引 367)
• Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. (2023 · Journal of the American Medical Association (JAMA) · 被引 204)
• ACMG PRACTICE RESOURCE: Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2023 · Genetics in Medicine · 被引 62)
• OpenPBTA: The Open Pediatric Brain Tumor Atlas (2023 · Cell Genomics · 被引 58)
• DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer (2023 · Frontiers in Endocrinology · 被引 39)
• Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies (2023 · BMC Medical Research Methodology · 被引 25)