Judith M. A. Verhagen

Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings

This study evaluates polygenic scores for hypertrophic cardiomyopathy (HCM) in the general population and clinical settings, showing increased risk with higher scores and potential for clinical application.

Bi-allelic variants in the aminopeptidase XPNPEP3 cause mitochondrial disease with pediatric cardiomyopathy

This study identifies bi-allelic XPNPEP3 variants causing mitochondrial disease with pediatric cardiomyopathy, revealing impaired mitochondrial protein processing as the underlying mechanism.

Genomic and biological panoramas of non-muscle actinopathies

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relations

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.