Author

Kevin James Munro

Manchester Academic Health Science CentreORCID 0000-0001-6543-9098Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:proteomics· 1

Frequent Co-Authors

Kyle Thompson· 3 shared Leigh A. M. DemainiD· 3 shared Raymond T. O’KeefeiD· 3 shared Robert William TayloriD· 3 shared William G. NewmaniD· 3 shared Wyatt W. YueiD· 3 shared Alessandro ReaiD· 2 shared Anju ShuklaiD· 2 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Kyle Thompson

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4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 19, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain…·William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

2 citations

humanproteomics

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GeneticsbioRxivPreprintFeb 14, 2019

Genome-wide association study identifies 44 independent genomic loci for self-reported adult hearing difficulty in the UK Biobank cohort

Helena R. R. Wells, Maxim B. Freidin, Fatin N. Zainul Abidin…·Frances M. K. Williams

5 citations

humanGWAS summary statistics

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GeneticsbioRxivPreprintJul 25, 2017

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Irit Hochberg, Leigh A. M. Demain, Jill E. Urquhart…·William G. Newman

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.

7 citations

humanstatistical model

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