Author

Suzanne Alsters

St George’s University Hospitals NHS Foundation TrustORCID 0009-0002-6851-6671Unclaimed 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 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajoy Sarkar· 1 shared Alexandra I. F. BlakemoreiD· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew R. WoodiD· 1 shared Andrianos M. Yiorkas· 1 shared Carel Wynand le RouxiD· 1 shared Cassandra L. SmithiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhijit DixitORCID

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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 MedicinemedRxivPreprintAug 4, 2023

Severe obesity may be an oligogenic condition: evidence from 1,714 adults seeking treatment in the UK National Health Service

Sumaya Almansoori, Hasnat A Amin, Suzanne Alsters…·Alexandra I. F. Blakemore

This study identifies rare genetic variants in obesity-related genes in a UK cohort of severe obesity patients, suggesting an oligogenic inheritance pattern and demonstrating the utility of custom genotyping arrays.

DOI 10.1101/2023.08.04.23293229

humanwhole-exome sequencing

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