Author

Laura E. Thomas

Swansea UniversityORCID 0000-0002-8621-5285Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cancer & tumor microenvironment· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Julian R. SampsoniD· 2 shared Alexandra CsábiiD· 1 shared Anne BarlieriD· 1 shared Ashutosh RaiiD· 1 shared Attila PatócsiD· 1 shared Barbara JarząbiD· 1 shared Bernard C. H. Lee· 1 shared Carmen S. Martin· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Julian R. SampsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 27, 2026

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

Donato Iacovazzo, Federica Begalli, Oniz Suleyman…·Márta Korbonits

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

DOI 10.64898/2026.02.26.26346165

humanwhole-exome sequencing

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GenomicsNature CommunicationsPeer-reviewedJul 8, 2022

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Philip S. Robinson, Laura E. Thomas, Federico Abascal…·Michael R. Stratton

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

63 citationstop 1%

humanwhole-genome sequencing

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