Author
Guy's and St Thomas' NHS Foundation TrustORCID 0000-0001-5632-0052Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Thomas P Spargo, Alfredo Iacoangeli, Mina Ryten…·Ammar Al‐Chalabi
The paper calculates the risk of developing rare neurodegenerative diseases following genetic screening, showing low risks for some variants and emphasizing the need for high sensitivity and specificity.
Harriet Copeland, Karen Jaqueline Low, Sarah Wynn…·Caroline Fiona Wright
The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.
Filomena Pirozzi, Matthew Berkseth, Rylee Shear…·Ghayda Mirzaa
The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.