Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of
complex developmental phenotypes. However, the contribution of global CNV burden to the risk …

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower
and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of …

Fetuin-A, also termed alpha2-Heremans-Schmid glycoprotein, is a 46 kDa hepatocyte derived
protein (hepatokine) and serves multifaceted functions. (i) It acts as systemic inhibitor of …

Background: Heart failure is a pathophysiological state, which is still associated with high
morbidity and mortality despite established therapies. Diverse well-known biomarkers fail to …

Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of
the specific genetic factors involved are unknown. Postulating that rare variants in genes in …

Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …

Background: MicroRNAs (miRNAs) are small, single-stranded RNA sequences that regulate
gene expression on a post-transcriptional level. In the last few decades, various trials have …

Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous
recombination have been associated with variable phenotypes exhibiting incomplete …

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate
diagnosis and management of this important emerging disorder. Methods Using massively …