Author

Paul Clift

Queen Elizabeth Hospital BirminghamORCID 0000-0001-8906-7647Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A. Cotton· 1 shared Abhijit DixitiD· 1 shared Ajoy Sarkar· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew R. WoodiD· 1 shared Aung OoiD· 1 shared Cassandra L. SmithiD· 1 shared Catherine Fielden· 1 shared

Activity by Year

2023-2025 · peak 1/yr

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10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Cotton

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJun 2, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Susan Walker, David J. Bunyan, Huw B. Thomas…·Alistair T. Pagnamenta

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

6 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintDec 2, 2023

Barriers to cascade screening in people at risk of Thoracic Aortic Disease: a mixed methods evaluation from the DECIDE-TAD initiative

Riccardo Giuseppe Abbasciano, Joanna Colleen Dionne, Joanne K. Miksza…·Gavin James Murphy

This study identifies barriers to cascade screening for thoracic aortic disease using mixed methods, finding low uptake due to awareness, health literacy, and cost concerns.

DOI 10.1101/2023.12.02.23299279

humanelectronic health records

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