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.

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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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

GeneticsScientific ReportsPeer-reviewedMar 24, 2025

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

Lisa Leinhos, Paul J. Robinson, Giulia Poloni…·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.

5 citations

mousebulk RNA-seq

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