Author

Elena Hein

University of Edinburgh

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

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adrian Peter BirdiD· 1 shared Beatrice Alexander-HowdeniD· 1 shared Benjamin P. KleinstiveriD· 1 shared Huda Yahya ZoghbiiD· 1 shared Jacky GuyiD· 1 shared Timur von Bock und Polach· 1 shared Tricia Mathieson· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Adrian Peter BirdORCID

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1 paper

Recent·Most cited

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur von Bock und Polach, Tricia Mathieson, Benjamin P. Kleinstiver, Huda Yahya Zoghbi, Adrian Peter Bird

The paper identifies that C-terminal deletions in MECP2 cause Rett syndrome by reducing MeCP2 levels due to a specific reading frame shift, and shows a gene-editing strategy to correct this.

bioRxiv · Aug 31, 2025 · PreprintGenetics