Author
Birmingham Women's 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
3 papers
Recent·Most cited
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.
Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald…·Neeti Ghali
The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.
Alba Sanchis‐Juan, Jonathan C. Stephens, Courtney E. French…·Keren Carss
The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.