M. V. van Slegtenhorst

Longitudinal burden of disease in hypertrophic cardiomyopathy: one-year follow-up of the AFFECT-HCM study

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. However, prospective data on the burden of disease (BoD) remain limited. Baseline results from the AFFECT-HCM cohort reported reduced quality of life (QoL) and increased societal costs among younger (working-aged), symptomatic HCM pat...

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.