Lucas Bronicki

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

The paper curates and classifies genetic evidence for dilated cardiomyopathy (DCM), identifying 19 genes with strong or moderate evidence and highlighting gaps in understanding.