Author
University of LeedsORCID 0000-0003-2371-1844Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Ankur Chaurasia, Anju Shukla, Shruti Pande…·Katta M. Girisha
The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.
Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito…·Diana Baralle
The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.
Lesley M. Chapman, Noah Spies, Patrick Pai…·Justin M. Zook
The paper introduces SVCurator, a crowdsourcing app for evaluating structural variants in the human genome, finding high concordance among curators and with existing benchmarks.
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.