Elspeth A. Bruford

Cambridge School — Portugal

Biochemistry, Genetics and Molecular Biology · Life Sciences

57h-index17.5kcitations138works4.52yr avg
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Research Topics

Genomics and Phylogenetic Studies(33), Biomedical Text Mining and Ontologies(25), Genomics and Rare Diseases(19), RNA and protein synthesis mechanisms(18), RNA modifications and cancer(12)

Publications137 total

Naming the alpha-2-macroglobulin gene family across vertebrates.
Apollo (University of Cambridge)·2026Open Access
Naming the alpha-2-macroglobulin gene family across vertebrates
Human Genomics·2026Open Access
RNAcentral in 2026: genes and literature integration
Nucleic Acids Research·2025· 6 citedOpen Access
Genenames.org: the HGNC and PGNC resources in 2026
Nucleic Acids Research·2025· 4 citedOpen Access
The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications
Physiological Reviews·2025· 2 cited
RNAcentral in 2026: Genes and literature integration
2025Open Access
An expanded reference catalog of translated open reading frames for biomedical research
2025· 7 citedOpen Access
Towards an official gene nomenclature for <i>Populus trichocarpa</i>
Tree Physiology·2025· 3 citedOpen Access
High-quality peptide evidence for annotating non-canonical open reading frames as human proteins
2024· 30 citedOpen Access
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions
Cancer Genetics·2024
Immunogenetics in hematopathology and hematology: why a common language is important
Leukemia·2024· 2 citedOpen Access
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
Genetics in Medicine Open·2024Open Access
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
Blood·2023· 16 citedOpen Access
The VGNC: expanding standardized vertebrate gene nomenclature
Genome biology·2023· 10 citedOpen Access
The case for standardizing gene nomenclature in vertebrates
Nature·2023· 10 citedOpen Access
Additional file 1 of The VGNC: expanding standardized vertebrate gene nomenclature
Figshare·2023Open Access
Additional file 4 of The VGNC: expanding standardized vertebrate gene nomenclature
Figshare·2023Open Access
Additional file 3 of The VGNC: expanding standardized vertebrate gene nomenclature
Figshare·2023Open Access
Additional file 2 of The VGNC: expanding standardized vertebrate gene nomenclature
Figshare·2023Open Access
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Genetics in Medicine Open·2023Open Access
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Frequent Co-authors

Ruth L. Seal(14), Matt W. Wright(11), Susan Tweedie(10), Kristian Gray(8), Adam Frankish(7), Michael Lush(6), Bethan Yates(6), Ruth C. Lovering(5), Bryony Braschi(5), Tamsin E. M. Jones(5), Todd M. Lowe(5), Sam Griffiths‐Jones(5), Anton I. Petrov(4), ROBERT FINN(4), Alex Bateman(4), Robin R. Gutell(4), Simon Kay(4), Jonathan M. Mudge(4), Patricia P. Chan(4), Artemis G. Hatzigeorgiou(4)