Author

Jill E. Urquhart

University of ManchesterORCID 0000-0002-5788-5511Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

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 Alexander J. M. BlakesiD· 2 shared Emma M. JenkinsoniD· 2 shared Inna A. BelyantsevaiD· 2 shared

Activity by Year

2017-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Leigh A. M. DemainORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

𝕏 PostBluesky

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

𝕏 PostBluesky

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

𝕏 PostBluesky