Raymond Dalgleish

机构：University of Leicester, University of Manchester · ORCID：0000-0001-7667-187X

发表论文 143 篇 · 总被引 6080 次 · h-index 35

代表论文

• HGVS Recommendations for the Description of Sequence Variants: 2016 Update (2016 · Human Mutation · 被引 1741)
• VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions (2017 · Human Mutation · 被引 214)
• EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta (2011 · European Journal of Human Genetics · 被引 143)
• HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions (2021 · Leukemia · 被引 91)
• Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants (2013 · Nucleic Acids Research · 被引 77)
• EMQN best practice guidelines for genetic testing in dystrophinopathies (2020 · European Journal of Human Genetics · 被引 74)