Benjamin M. Helm

Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings

This study shows cardiovascular genetic counseling improves patient empowerment and reduces worry, with benefits varying by patient characteristics and the strength of the counselor-patient relationship.

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.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.