RBM20 (RNA-binding motif protein 20) is a vertebrate-and muscle-specific RNA-binding
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …

As the price of next-generation sequencing keeps decreasing, cost is becoming a less
important discriminator for diagnostic laboratories in choosing the preferred type of …

Objective Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting
different components of the immune system. Over 450 IEI related genes have been …

Background: This study aimed to describe the current practice and results of genetic
evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype …

Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has
identified numerous disease‐causing variants, but few studies have evaluated genetic …

Background: During cardiomyocyte maturation, the centrosome, which functions as a
microtubule organizing center in cardiomyocytes, undergoes dramatic structural …

Introduction Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause
pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods …

Background Dilated cardiomyopathy may be heritable but shows extensive genetic
heterogeneity. The utility of whole exome sequencing as a first‐line genetic test for patients …

Background: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the
cause of which is largely unknown. The influence of consanguinity on the genetics of …

Neonatal heart failure is a rare, poorly-understood presentation of familial dilated
cardiomyopathy (DCM). Exome sequencing in a neonate with severe DCM revealed a …