Carlos C. Smith-Díaz

MAP3K7 Loss of Function Causes Dilated Cardiomyopathy

This paper shows that loss-of-function variants in MAP3K7 cause dilated cardiomyopathy (DCM), both as part of syndromic disease and as apparently isolated DCM.

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

Proteomics Uncovers Cryptic JPH2 Loss in Paediatric Dilated Cardiomyopathy

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

Peroxidasin is associated with a mesenchymal-like transcriptional phenotype and promotes invasion in metastatic melanoma

This study shows that peroxidasin (PXDN) promotes invasion in metastatic melanoma by supporting a mesenchymal-like transcriptional phenotype, as demonstrated through transcriptomic and proteomic analyses.