Author

Vera Cerqueira

Queen Elizabeth University Hospital

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alison M. MeynertiD· 1 shared Alison Ross· 1 shared Alistair T. PagnamentaiD· 1 shared Anne Lampe· 1 shared Anthony McGuiganiD· 1 shared Austin G. DiamondiD· 1 shared Caitlin Newman· 1 shared Christelle Robert· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison M. MeynertORCID

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1 paper

Recent·Most cited

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross, Edward S. Tobias, Ruth McGowan, Morad Ansari, David U. Baty, Jonathan N. Berg, Therese Bradley, Vera Cerqueira, Austin G. Diamond, Mihail R. Halachev, Anne Lampe, , Timothy J. Aitman

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

European Journal of Human Genetics · Aug 5, 2026Peer-reviewedGenetic & Genomic Medicine