The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

Due to the spectacular number of studies focusing on epigenetics in the last few decades,
and particularly for the last few years, the availability of a chronology of epigenetics appears …

Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …

Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …

New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Macromolecular assemblies that regulate chromatin structure using the energy of ATP
hydrolysis have critical roles in development, cancer, and stem cell biology. The ATPases of …

Many patients suffering from developmental disorders harbor submicroscopic deletions or
duplications that, by affecting the copy number of dosage-sensitive genes or disrupting …

The packaging of chromosomal DNA by nucleosomes condenses and organizes the
genome, but occludes many regulatory DNA elements. However, this constraint also allows …