S. Bale

发表论文 192 篇 · 总被引 44626 次 · h-index 61

代表论文

• Clinical application of whole-exome sequencing across clinical indications (2015 · Genetics in Medicine · 被引 965)
• ACMG SF v3.0 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) (2021 · Genetics in Medicine · 被引 452)
• Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing (2015 · Genetics in Medicine · 被引 278)
• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (2021 · Genetics in Medicine · 被引 273)
• Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar (2017 · Genetics in Medicine · 被引 228)
• Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination (2015 · Journal of Medical Genetics · 被引 82)