Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

JCDD | Free Full-Text | Cardiomyopathies in Children and Systemic Disorders When Is It Useful
to Look beyond the Heart? Next Article in Journal Patient–Prosthesis Mismatch in Contemporary …

The essential deamination of adenosine A34 to inosine at the wobble base is the individual
tRNA modification with the greatest effects on mRNA decoding, empowering a single tRNA …

Post-transcriptional modification of tRNA wobble adenosine into inosine is crucial for
decoding multiple mRNA codons by a single tRNA. The eukaryotic wobble adenosine-to …

The yield of chromosomal microarray analysis (CMA) is well established in structurally
normal fetuses (0.4–1.4%). We aimed to determine the incremental yield of exome …

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death.
Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous …

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative
genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index …

Over the past two decades, genomic sequencing (exome and genome) has proven to be
critical in providing a faster and more accurate diagnosis as well as tailored treatment plans …

Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal
tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a …

BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved
cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in …