Emily Huber

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

The paper tests a 'two-hit' model for neurodevelopmental defects by examining interactions between 16p12.1 homologs and 'second-hit' genes in Drosophila and Xenopus laevis, finding genetic interactions in 63% of tested pairs.

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

This study identifies NCBP2 as a key modifier gene in the 3q29 deletion, showing it enhances developmental defects through disrupted apoptosis and cell cycle mechanisms in Drosophila and Xenopus models.

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

The paper identifies genetic interactions within the 16p11.2 deletion that modulate neurodevelopmental phenotypes in Drosophila and links these interactions to human brain networks.