Ruth A Newbury-Ecob

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.

The paper identifies epigenetic aging abnormalities in growth disorders caused by mutations in epigenetic regulatory molecules.