Author
Western General Hospital
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
Matías G. De Vas, Fanny Boulet, Shweta S Joshi…·Santosh S. Atanur
This study identifies regulatory de novo mutations in fetal brain-specific enhancers as a significant contributor to intellectual disability.
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha…·Therese Bradley
The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.
Matías G. De Vas, Myles G. Garstang, Shweta S Joshi…·Santosh S. Atanur
The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.
Jenny Lord, Giuseppe Gallone, Patrick Short…·on behalf of the Deciphering Developmental Disorders study
The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.