Author

Leigh A. M. Demain

University of ManchesterORCID 0000-0001-8694-7710Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Research Focus:differential expression· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Assay:DNA methylation· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Raymond T. O’KeefeiD· 4 shared Robert William TayloriD· 4 shared William G. NewmaniD· 4 shared Wyatt W. YueiD· 4 shared Jill E. UrquhartiD· 3 shared Kevin James MunroiD· 3 shared Kyle Thompson· 3 shared Alessandro ReaiD· 2 shared

Activity by Year

2017-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Raymond T. O’KeefeORCID

Mutual co-authors in cluster

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5 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 MedicinemedRxivPreprintOct 4, 2024

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

DOI 10.1101/2024.10.04.24314535

humanstatistical model

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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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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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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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