Author

Lisa G. Riley

Children's Medical Research InstituteORCID 0000-0002-1142-316XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2

Frequent Co-Authors

Alison J. EatoniD· 1 shared Andrew Tym HattersleyiD· 1 shared Anna Segarra-FasiD· 1 shared Carmen Espejo-SerranoiD· 1 shared Cécile Saint‐MartiniD· 1 shared Colm Costigan· 1 shared Diego BalboaiD· 1 shared Donal Brendan O'SheaiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperDevelopmental Biology

Alison J. EatonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 18, 2025

A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism

Jasmin J. Bennett, Hazem Ibrahim, Jonna M. E. Männistö…·Sarah Elizabeth Flanagan

This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.

DOI 10.64898/2025.12.16.25342131

humanexperimental assay

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Developmental BiologyScientific ReportsPeer-reviewedMay 5, 2021

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas…·Greg M. Findlay

This paper identifies a novel RLIM variant causing severe Tonne-Kalscheuer syndrome by disrupting protein stability and function.

13 citations

humanexperimental assay

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