Corrine Smolen

The paper examines the evolutionary instability and structural diversity at the 16p12.2 locus across human and non-human primate haplotypes, identifying mechanisms driving deletion susceptibility and neurodevelopmental disorders.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

The paper develops a framework to study variable expressivity in genetic disorders using 16p12.1 deletion models, showing how genetic background and secondary variants influence gene expression and phenotypes.

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

This paper generates Ccdc28b mutant mice and finds they exhibit social behavioral defects and autism-like features, suggesting a link between CCDC28B and autism spectrum disorder beyond its role as a modifier of Bardet-Biedl syndrome.

The paper investigates how gene expression changes from a 16p12.1 deletion and second-hit variants contribute to phenotypic variability in developmental delay.

The paper identifies genetic factors in autism that contribute to comorbidity with intellectual disability, showing increased risk for ID with specific variants.