Author
Birmingham Women’s and Children’s NHS Foundation TrustORCID 0000-0003-4857-1964Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 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.
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
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.
Daniel Shiloh Malawsky, Eva S. van Walree, Benjamin M. Jacobs…·Hilary C. Martin
The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.
Nana Mensah, Ataf Hussain Sabir, Andrew Bond…·Joo Wook Ahn
TierUp automates reanalysis of genomic data to identify novel gene-disease associations, improving diagnostic yield for undiagnosed rare disease cases.