Author

Emily R Anderson

Liverpool Women's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander J. M. BlakesiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Christian G. DeGoede· 1 shared Christopher B. BurgeiD· 1 shared Christopher Campbell· 1 shared Diana BaralleiD· 1 shared Elston N. D’SouzaiD· 1 shared Jamie M. EllingfordiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alexander J. M. BlakesORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 12, 2023

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes…·Nicola Whiffin

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.

5 citations

humanwhole-genome sequencing

𝕏 PostBluesky