Sarah Hilton

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.