Despite advances in high-throughput sequencing that have revolutionized the discovery of
gene defects in rare Mendelian diseases, there are still gaps in translating individual …

Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

With the explosion of gene editing tools in recent years, there has been a much greater
demand for mouse embryo phenotyping, and traditional methods such as histology and …

Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to
severe brain malformations with variable penetrance due to unknown modifier genes. To …

Neural tube defects (NTDs) are common, often severe congenital malformations of the
central nervous system. Anencephaly and open spina bifida (myelomeningocele) arise from …

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth,
whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap …

Background Maternal smoking or passive smoking during gestation increases the risk of
congenital birth defects, including neural tube defects (NTDs). Cigarette smoke is a …

Defects in spermatogenesis are an important cause of male infertility. Multiple aspects of
spermatogenesis are controlled by chromatin remodellers, including regulating transcription …

An increasing number of disorders have been identified for which two or more distinct alleles
in two or more genes are required to either cause the disease or to significantly modify its …

The mechanisms underlying mammalian neural tube closure remain poorly understood. We
report a unique cellular process involving multicellular rosette formation, convergent cellular …