Erik C. Thorland

机构：Mayo Clinic, WinnMed

发表论文 122 篇 · 总被引 11181 次 · h-index 40

代表论文

• Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) (2021 · Genetics in Medicine · 被引 68)
• Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification (2021 · Human Mutation · 被引 63)
• The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation (2024 · Genetics in Medicine · 被引 62)
• Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) (2022 · Genetics in Medicine · 被引 40)
• Typical, atypical and cryptic t(15;17)(q24;q21) ( PML::RARA ) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies (2022 · Genes Chromosomes and Cancer · 被引 17)
• Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP (2022 · Muscle & Nerve · 被引 9)