Author

Emma L. Blakely

Newcastle upon Tyne Hospitals NHS Foundation TrustORCID 0000-0001-8247-4194Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Charlotte L. AlstoniD· 2 shared Robert McFarlandiD· 2 shared Robert William TayloriD· 2 shared A. A. M. MorrisiD· 1 shared Abeer DannouraiD· 1 shared Alain Fouilhoux· 1 shared Andrew M. SchaeferiD· 1 shared Andrew Michael FreyiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Charlotte L. AlstonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 19, 2026

Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease

Sarah J. Smith, Samira Ait-El-Mkadem Saadi, Jamie K. Leighton…·Robert William Taylor

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

DOI 10.64898/2026.10.19.26365523

humanproteomics

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Genetic & Genomic MedicinemedRxivPreprintNov 18, 2022

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin…·Sarah J. Pickett

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

2 citations

humanstatistical model

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