Author
St James's University HospitalORCID 0000-0002-9710-4724Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Susan Walker, David J. Bunyan, Huw B. Thomas…·Alistair T. Pagnamenta
The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.
Georgios Nikolopoulos, Claire E. L. Smith, James A. Poulter…·Alan J. Mighell
The paper identifies new pathogenic variants in the MMP20 gene associated with autosomal recessive amelogenesis imperfecta and explores their genetic origins across different populations.
Serge Bonnefoy, Christopher Mark Watson, Kristin D. Kernohan…·Eamonn G. Sheridan
The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.