Author
Manchester Academic Health Science CentreORCID 0000-0001-7396-4108Unclaimed ORCID profile · follow to get notified of new preprints
7 papers
Recent·Most cited
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.
Simon G. Williams, Dominic J. F. Byrne, Bernard D. Keavney
The paper identifies rare GATA6 variants linked to increased risk of bicuspid aortic valve in a large UK Biobank exome study.
Miriam S. Reuter, Rajiv R Chaturvedi, Rebekah Jobling…·Anne S. Bassett
The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.
Kathryn A. McGurk, Simon G. Williams, Hui Guo…·Bernard D. Keavney
The paper assesses heritability and identifies genetic variants influencing plasma NAE and CER lipid levels using GWAS in a family cohort.
Simon G. Williams, Apostol Nakev, Hui Guo…·Bernard D. Keavney
This study examines the association of a 15q11.2 BP1-BP2 deletion with neuropsychiatric, cognitive, and cardiovascular phenotypes in ~500,000 UK Biobank individuals, finding increased prevalence in disease cases and reduced cognitive function in carriers.
Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney
The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.
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.