Author

Evie Singer

University of Birmingham

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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Genetics· 1

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Adam B LokmaniD· 1 shared Benjamin DaviesiD· 1 shared Charles S RedwoodiD· 1 shared Charlotte L. Hooper· 1 shared Christopher N. ToepferiD· 1 shared Christopher SemsarianiD· 1 shared Elizabeth OrmondroydiD· 1 shared Gillian DouglasiD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adam B LokmanORCID

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1 paper

Recent·Most cited

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Lisa Leinhos, Paul J. Robinson, Giulia Poloni, Sophie Broadway‐Stringer, Julia Beglov, Adam B Lokman, Gillian Douglas, Sajjad Nuthay, Oveena Fonseka, Manuel Schmid, Evie Singer, Charlotte L. Hooper, Kate L. Thomson, Richard D. Bagnall, Jodie Ingles, , Katja Gehmlich

This study identifies an ALPK3 truncation variant causing HCM and shows that mavacamten partially rescues cardiac contractility and calcium handling defects in a mouse model.

Scientific Reports · Mar 24, 2025Peer-reviewedGenetics