Cindy D. Skinner

The paper identifies PRDM1 variants causing Split Hand/Foot Malformation and shows their functional impact on limb development through zebrafish experiments and gene expression analysis.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

This study demonstrates that optical genome mapping (OGM) achieves high concordance with standard-of-care testing and identifies additional reportable variants in neurodevelopmental disorder cohorts.

This study evaluates the performance and reproducibility of optical genome mapping (OGM) across multiple sites for detecting structural variations and copy number variations in constitutional disorders, showing high concordance with standard of care methods.

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.