Sarah Smithson

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia

This study investigates how matrix metalloproteinases (MMP-1 and MMP-14) contribute to cell migration defects in geleophysic dysplasia, showing their potential as therapeutic targets.

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.

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

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

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

This study analyzes splicing variants in whole-genome sequencing data to identify new diagnoses in rare diseases.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

The contribution of X-linked coding variation to severe developmental disorders

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