Publication & Citation Trends
Most Cited Works
Publications
9 total
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants PDF
Cited by 28
OpenAlex
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting PDF
Cited by 792
OpenAlex
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted PDF
Cited by 29
OpenAlex
5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
Cited by 7
OpenAlex
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts PDF
Cited by 48
OpenAlex
5’ splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity PDF
Cited by 2
OpenAlex
The experimentally obtained functional impact assessments of GT>GC 5’ splice site variants differ markedly from those predicted PDF
Cited by 0
OpenAlex
Research Topics
RNA modifications and cancer
(8)
RNA and protein synthesis mechanisms
(7)
RNA Research and Splicing
(6)
Cancer Genomics and Diagnostics
(2)
Genomics and Rare Diseases
(2)
Frequent Co-Authors
Affiliations
Laboratory of Excellence GR-Ex
University of Wales Institute Cardiff
Cardiff University