Virginia E. Clowes

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

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%.

Pathogenicity and selective constraint on variation near splice sites

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.