Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …

This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

Zebrafish have become a popular organism for the study of vertebrate gene function,. The
virtually transparent embryos of this species, and the ability to accelerate genetic studies by …

Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …

A finely regulated system of airway epithelial development governs the differentiation of
motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …

BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …