Francesco Mazzarotto

Investigating the Distinctive Clinical and Genetic Landscape of PPA2 Deficiency

BACKGROUND: PPA2 encodes for inorganic pyrophosphatase 2, a mitochondrial enzyme that hydrolyzes inorganic pyrophosphates into orthophosphate. Biallelic loss-of-function variants cause PPA2 deficiency, an emerging recessive cardiac condition that causes heart failure and sudden c...

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy

BACKGROUND: Evidence of the diverse genetic architecture of dilated cardiomyopathy (DCM) continues to emerge and requires reassessment of the clinical relevance of implicated disease genes. Building on the 2019-2020 Clinical Genome Resource evaluation, the DCM gene curation exper...

Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies

Abstract Background Gene panels represent a widely used strategy for genetic testing in a vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection of short coding variants, it often fails to detect many larger variants. Recent studies have reco...