Andrew Paul Landstrom

The paper identifies cardiomyocyte-specific vulnerabilities to LMNA mutations using saturation mutagenesis in hiPSCs and cardiomyocytes, revealing how lamin polymer disruption leads to disease.

This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.

This study identifies PERM1 as a downstream target of PRDM16 and shows that Perm1 gene therapy improves cardiomyopathy in Prdm16 knockout mice through mitochondrial and sarcomere preservation.

The paper identifies a gene regulatory element that modulates MYH6 expression and influences cardiomyocyte response to stress.

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.

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