Notch pathway is an evolutionarily conserved signalling system that operates to influence an
astonishing array of cell fate decisions in different developmental contexts. Notch signalling …

Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …

Background Whole exome sequencing (WES) has been widely accepted as a robust and
cost-effective approach for clinical genetic testing of small sequence variants. Detection of …

Differences between genomes can be due to single nucleotide variants (SNPs),
translocations, inversions and copy number variants (CNVs, gain or loss of DNA). The latter …

MicroRNAs (miRNAs) play an important role in guiding development and maintaining
function of the human heart. Dysregulation of miRNAs has been linked to various congenital …

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Highly
penetrant copy number variants (CNVs) and genes related to the etiology of TOF likely exist …

Congenital heart disease (CHD), the most common type of birth defect, is still the leading
non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence …

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease in newborns.
ISL1 is a master transcription factor in second heart field development, whereas the roles of …

Patient-specific induced pluripotent stem cells (ps-iPSCs) and their differentiated cell types
are a powerful model system to gain insight into mechanisms driving early developmental …

Over the last ten years, analysis of copy number variants has increasingly been applied to
the study of arrhythmogenic pathologies associated with sudden death, mainly due to …