Author

Stefen Brady

John Radcliffe HospitalORCID 0000-0001-6812-0920Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ashirwad MerveiD· 2 shared Enrico BugiardiniiD· 2 shared Henry HouldeniD· 2 shared Aasta Kelly· 1 shared Alessandro BertiniiD· 1 shared Alexander HoischeniD· 1 shared Alice Monticelli· 1 shared Alicia Alonso‐JiméneziD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ashirwad MerveORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 1, 2026

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

Liedewei Van de Vondel, Riccardo Curró, Stefano Facchini…·Andrea Cortese

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

1 citation

humanwhole-genome sequencing

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GeneticsBrainPeer-reviewedDec 23, 2021

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese…·Gianina Ravenscroft

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

31 citations

human

𝕏 PostBluesky